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Biochemistry of Sulfur pp 359–411Cite as

Inherited Disorders of Sulfur Metabolism

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Part of the book series: Biochemistry of the Elements ((BOTE,volume 6))

Abstract

Some disorders of sulfur metabolism affect thousands of people. Many, however, are rare. Interest in these conditions reaches beyond their clinical significance because genetically determined metabolic alterations, defects and deficiencies are biochemical windows giving insight into mechanisms that is normally denied the investigator. Apropos of steroid sulfate sulfatase deficiency, Shapiro (1985) has elegantly written that, “it is considered axiomatic in human genetics that the study of relatively rare disorders may yield far more in dividends than might be anticipated based on the incidence of the condition in question”. To understand the normal, one must study the abnormal. Study of the disorders discussed in this chapter have permitted the testing and refining of our concepts of sulfur metabolism, its quantitation and regulation. Thus, much of our understanding of Met biochemistry has been triumphantly borne out by the study of the inherited defects discussed in Section 8.2.

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References

  • Abderhalden, E., 1903. Familiäre Cystindiathese. Z. Physiol. Chem. 38:557–561.

    CAS  Google Scholar 

  • Ansell, D. R. J., and Tudball, N., 1977. The existence of human liver cystathionine ß-synthase in multiple molecular forms, Biochim. Biophys. Acta 483:443–451.

    PubMed  CAS  Google Scholar 

  • Arbisser, A. I., Donnelly, K. A., Scott, C. I., Diferrante, N. M., Singh, J., Stevenson, R. E., Aylesworth, A. S., and Howell, R. R., 1977. Morquio-like syndrome with ß-galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB, Am. J. Med. Genet. 1:195–205.

    PubMed  CAS  Google Scholar 

  • Arrow, V. K., and Westall, R. G., 1958. Amino acid clearances in cystinuria, J. Physiol. 142:141–146.

    PubMed  CAS  Google Scholar 

  • Austin, J., 1966. Studies in metachromatic leukodystrophy XII. Multiple sulfatase deficiency, Arch. Neurol. 15:13–28.

    PubMed  Google Scholar 

  • Austin, J. H., 1973. Studies in metachromatic leukodystrophy. Multiple sulfatase deficiency, Arch. Neurol. 28:258–264.

    PubMed  CAS  Google Scholar 

  • Austin, J. H., Balasubramanian, A. S., Pattabiraman, T. N., Saraswathi, S., Basu, D. K., and Bachhawat, B. K., 1963. A controlled study of enzymatic activities in three human disorders of glycolipid metabolism, J. Neurochem. 10:805–816.

    PubMed  CAS  Google Scholar 

  • Bach, G., Eisenberg, F., Cantz, M., and Neufeld, E. P., 1973. The defect in the Hunter syndrome: Deficiency of sulfoiduronate sulfatase, Proc. Natl. Acad. Sci. USA 70:2134–2138.

    PubMed  CAS  Google Scholar 

  • Baden, H. D., Hooker, P. H., Kubilus, J., and Tarascio, A., 1980. Sulfatase activity of keratinizing tissues in X-linked ichthyosis, Pediat. Res. 14:1347–1348.

    PubMed  CAS  Google Scholar 

  • Barber, G. W., and Spaeth, G. L., 1967. Pyridoxine therapy in homocystinuria, Lancet 1967(i):337.

    Google Scholar 

  • Barber, G. W., and Spaeth, G. L., 1969. The successful treatment of homocystinuria with pyridoxine, J. Pediat. 75:463–478.

    PubMed  CAS  Google Scholar 

  • Barranger, J. A., and Brady, R. O., 1984. Molecular Basis of Lysosomal Storage Disease, Academic Press, New York, 502 pp.

    Google Scholar 

  • Basner, R., Kresse, H., and von Figura, K., 1979a. N-Acetylglucosamine 6-sulfate sulfatase from human urine, J. Biol. Chem. 254:1151–1158.

    PubMed  CAS  Google Scholar 

  • Basner, R., von Figura, K., Glössl, J., Klein, U., Kresse, H., and Mlekusch, W., 1979b. Multiple deficiency of mucopolysaccharide sulfatase in mucosulfatidosis, Pediat. Res. 13:1316–1318.

    PubMed  CAS  Google Scholar 

  • Beaudet, A. L., Diferrante, N. M., Ferry, G. D., Nichols, B. L., and Mullins, C. E., 1975. Variation in the phenotypic expression of ß-glucuronidase deficiency, J. Pediat. 86:388–394.

    PubMed  CAS  Google Scholar 

  • Benevenga, N.J., and Harper, A. E., 1967. Alleviation of methionine and homocystine toxicity in the rat, J. Nutr. 93:44–52.

    PubMed  CAS  Google Scholar 

  • Bergner, E., and Shapiro, L. J., 1981. Increased cholesterol sulfate in plasma and red blood cell membranes of steroid sulfatase deficient patients, J. Clin. Endocrinol. Metab. 53:221–223.

    PubMed  CAS  Google Scholar 

  • Boers, G. H. J., Smals, A. G. H., Trijbels, F. J. M., Fowler, B., Bakkeren, J. A. J. M., Schoonderwaldt, H. C., Kleijer, W. J., and Kloppenborg, P. W. C., 1985. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease, N. Engl. J. Med. 313:709–715.

    PubMed  CAS  Google Scholar 

  • Braunstein, G. D., Ziel, F. H., Allen, A., Van de Velde, R., and Wade, M., 1976. Prenatal diagnosis of placental steroid sulfatase deficiency, Am. J. Obstet. Gynecol. 126:716–719.

    PubMed  CAS  Google Scholar 

  • Brenton, D. P., and Cusworth, D. C., 1966. Homocystinuria: Metabolism of [35S]methionine, Clin. Sci. 31:197–206.

    PubMed  CAS  Google Scholar 

  • Brenton, D. P., and Cusworth, D. C., 1971. The response of patients with cystathionine synthase deficiency to pyridoxine, in Inherited Disorders of Sulphur Metabolism (N. A. J. Carson and D. N. Raine, eds), Churchill Livingstone, London, pp. 264–274.

    Google Scholar 

  • Brenton, D. P., Cusworth, D. C., and Gaull, G. E., 1965a. Homocystinuria: Metabolic studies on three patients, J. Pediat. 67:58–68.

    PubMed  CAS  Google Scholar 

  • Brenton, D. P., Cusworth, D. C., and Gaull, G. E., 1965b. Homocystinuria: Biochemical studies of tissues including a comparison with cystathioninuria, Pediatrics 35:50–56.

    PubMed  CAS  Google Scholar 

  • Brenton, D. P., Cusworth, D. C., Dent, C. E., and Jones, E. E., 1966. Homocystinuria: Clinical and dietary studies, Quart. J. Med. 35:325–346.

    PubMed  CAS  Google Scholar 

  • Callahan, J. W., and Lowden, J. A., 1981. Lysosomes and Lysosomal Storage Diseases, Raven Press, New York, 434 pp.

    Google Scholar 

  • Cantz, M., and Gehler, J., 1976. The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism, Hum. Genet. 32:233–255.

    PubMed  CAS  Google Scholar 

  • Carson, N. A. J., 1975. Homocystinuria, in The Treatment of Inherited Metabolic Disease (D. N. Raine, ed), MTP Press, Lancaster, pp. 33–69.

    Google Scholar 

  • Carson, N. A. J., and Neill, D. W., 1962. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland, Arch. Dis. Child. 37:507–513.

    Google Scholar 

  • Carson, N. A. J., and Raine, D. N., 1971. Inherited Disorders of Sulphur Metabolism, Churchill Livingstone, Edinburgh, 312 pp.

    Google Scholar 

  • Carson, N. A. J., Cusworth, D. C., Dent, C. E., Field, C. M. B., Neill, D. W., and Westall, R. G., 1963. Homocystinuria: A new inborn error of metabolism with mental deficiency, Arch. Dis. Child. 38:425–436.

    PubMed  CAS  Google Scholar 

  • Crawfurd, M. d’A., 1982. Genetics of steroid sulfatase deficiency and X-linked ichthyosis, J. Inher. Metab. Dis. 5:153–163.

    PubMed  CAS  Google Scholar 

  • Crawhall, J. C., 1974. Cystinuria—diagnosis and treatment, in Heritable Disorders of Amino Acid Metabolism (W. L. Nyhan, ed), John Wiley, New York, pp. 593–617.

    Google Scholar 

  • Crawhall, J. C., Lietman, D. S., Schneider, J. A., and Seegmiller, J. E., 1968. Cystinosis: Plasma cystine and cysteine concentrations and the effect of D-penicillamine and dietary treatment, Am. J. Med. 44:330–339.

    PubMed  CAS  Google Scholar 

  • Daniel, W. L., 1985. Arylsulfatase C and the steroid sulfatases, Curr. Top. Biol. Med. Res. 12:189–228.

    CAS  Google Scholar 

  • Da Silva, V. A., Zurbrugg, R. P., Lavanchy, P., Blumberg, A., Suter, H., Wyss, S. R., Luthy, C. M., and Oetliker, O. H., 1985. Long-term treatment of infantile nephrophatic cystinosis with cysteamine, N. Engl. J. Med. 313:1460–1463.

    PubMed  Google Scholar 

  • Dawson, G., 1979. Glycoprotein storage diseases and the mucopolysaccharidoses, in Complex Carbohydrates of Nervous Tissue (R. W. Margolis and R. K. Margolis, eds), Plenum Press, New York, pp. 347–375.

    Google Scholar 

  • DeLuca, C., Brown, J. H., and Shows, T. B., 1979. Lysosomal arylsulfatase deficiencies in humans: Chromosome assignment of arylsulfatase A and B, Proc. Natl. Acad. Sci. USA 76:1957–1961.

    PubMed  CAS  Google Scholar 

  • Dent, C. E., Senior, B., and Walshe, J. M., 1954. The pathogenesis of cystinuria. Polarographic studies of the metabolism of sulphur containing amino acids, J. Clin. Invest. 33:1216–1226.

    PubMed  CAS  Google Scholar 

  • DePape-Brigger, D., Goldman, H., Scriver, C. R., Delvin, E., and Mamer, O., 1977. The in vivo use of dithiothreitol in cystinosis, Pediat. Res. 11:124–131.

    PubMed  CAS  Google Scholar 

  • Desnick, R. J., Thorpe, S. R., and Fiddler, M. B., 1976. Toward enzyme therapy for lysosomal storage diseases, Physiol. Rev. 56:57–99.

    PubMed  CAS  Google Scholar 

  • Dicfalusy, E., 1969. Steroid metabolism in the human foetoplacental unit, Acta Endocrinol. 61:649–664.

    Google Scholar 

  • Dillon, M. J., England, J. M., Gompertz, D., Goodey, M. A., Grant, D. B., Hussein, H. A. A., Linnell, J. C., Matthews, D. M., Mudd, S. H., Newus, G. H., Seakins, J. W. T., Uhlendorf, B. W., and Wise, I. J., 1974. Mental retardation, megaloblastic anemia, methylmalonic aciduria, and abnormal homocysteine metabolism due to an error in B12 metabolism, Clin. Sci. Mol. Med. 47:43–61.

    PubMed  CAS  Google Scholar 

  • Dingle, J. T., Dean, R. T., and Sly, W. S., 1984. Lysosomes in Biology and Pathology, Vol. 7, Elsevier, Amsterdam, 479 pp.

    Google Scholar 

  • Dorfman, A., and Matalon, R., 1972. The mucopolysaccharidoses, in The Metabolie Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds), McGraw-Hill, New York, pp. 1218–1272.

    Google Scholar 

  • Dorfman, A., and Matalon, R., 1976. The mucopolysaccharidoses (a review), Proc. Natl. Acad. Sci. USA 73:630–637.

    PubMed  CAS  Google Scholar 

  • Dunn, H. G., and Perry, T. L., 1966. Homocystinuria, recently discovered cause of mental defect and cerebrovascular thrombosis, Neurology 16:407–420.

    PubMed  CAS  Google Scholar 

  • Eldjarn, L., Jellum, E., and Stokke, O.,.1973a. Pyroglutamic aciduria, in Inborn Errors of Metabolism (F. A. Hammes and C. J. Van Den Bern, eds), Academic Press, New York, pp. 255–260.

    Google Scholar 

  • Eldjarn, L., Jellum, E., and Stokke, O., 1973b. Pyroglutamic aciduria: Rate of formation and degradation of pyroglutamate, Clin. Chim. Acta 49:311–323.

    PubMed  CAS  Google Scholar 

  • Epstein, E. H., Krauss, R. M., and Shackleton, C. H. L., 1981. X-Linked ichthyosis: Increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein, Science 214:659–660.

    PubMed  CAS  Google Scholar 

  • Erbe, R. W., 1975. Inborn errors of folate metabolism, N. Engl. J. Med. 293:753–757.

    PubMed  CAS  Google Scholar 

  • Erickson, R. P., Harper, K., and Kramer, J. M., 1983. Identification of an autosomal locus affecting steroid sulfatase activity among inbred strains of mice, Genetics 105:181–189.

    PubMed  CAS  Google Scholar 

  • Eto, Y., Rampini, S., Wiesmann, U., and Herschkowitz, N. N., 1974. Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leucodystrophy with multiple sulphatase deficiencies: Arylsulphatases A, B and C., cerebroside sulphatase, psychosine sulphatase and steroid sulphatases, J. Neurochem. 23:1161–1170.

    PubMed  CAS  Google Scholar 

  • Farooqui, A. A., 1980. Sulfatases, sulfate esters and their metabolic disorders, Biochim. Biophys. Acta 100:285–299.

    CAS  Google Scholar 

  • Farooqui, A. A., 1981. Metabolism of sulfolipids in mammalian tissues, Adv. Lipid Res. 18:159–202.

    PubMed  CAS  Google Scholar 

  • Farooqui, A. A., Rebel, G., and Mandel, P., 1977. Sulphatide metabolism in brain, Life Sci. 20:569–584.

    PubMed  CAS  Google Scholar 

  • Finkelstein, J. D., 1974. Methionine metabolism in mammals: The biochemical basis for homocystinuria, Metabolism 23:387–398.

    PubMed  CAS  Google Scholar 

  • Finkelstein, J. D., 1975. Enzyme defects in sulfur amino acid metabolism in man, in Metabolism of Sulfur Compounds (D. M. Greenberg, ed), Academic Press, New York, pp. 547–597.

    Google Scholar 

  • Finkelstein, J. D., Mudd, S. H., Irreverre, F., and Laster, L., 1966. Deficiencies of cystathionase and homoserine dehydratase activities in cystathioninuria, Proc. Natl. Acad. Sci. USA 55:865–872.

    PubMed  CAS  Google Scholar 

  • Finkelstein, J. D., Kyle, W. E., and Martin, J. J., 1975. Abnormal methionine adenosyltransferase in hypermethioninemia, Biochem. Biophys. Res. Commun. 66:1491–1497.

    PubMed  CAS  Google Scholar 

  • Fluharty, A. L., Stevens, R. L., Fung, D., Peak, S., and Kihara, H., 1975. Uridine diphospho-N-acetylgalactosamine 4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome, Biochem. Biophys. Res. Commun. 64:955–962.

    PubMed  CAS  Google Scholar 

  • Fluharty, A. L., Stevens, R. L., Davis, L., Shapiro, L. J., and Kihara, H., 1978. Presence of arylsulfatase A in multiple sulfatase deficiency disorder fibroblasts, Am. J. Hum. Genet. 30:249–255.

    PubMed  CAS  Google Scholar 

  • Fluharty, A. L., Stevens, R. L., de la Flor, S. D., Shapiro, L. J., and Kihara, H., 1979. Arylsulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts, Am. J. Hum. Genet. 31:574–580.

    PubMed  CAS  Google Scholar 

  • Fox, M., Thier, S., Rosenberg, L. E., Kiser, W., and Segal, S., 1964. Evidence against a single renal transport defect in cystinuria, N. Engl. J. Med. 270:556–561.

    PubMed  CAS  Google Scholar 

  • France, J. T., 1979. Steroid sulfatase deficiency, J. Steroid Biochem. 11:647–651.

    PubMed  CAS  Google Scholar 

  • France, J. T., and Downey, J. A., 1974. A study of arylsulfatase activity in children born of pregnancies affected with placental sulfatase deficiency, Biochem. Med. 10:167–174.

    PubMed  CAS  Google Scholar 

  • France, J. T., and Liggins, G. C., 1969. Placental sulfatase deficiency, J. Clin. Endocrinol. Metab. 29:138–141.

    PubMed  CAS  Google Scholar 

  • France, J. T., Seddons, R. J., and Liggins, G. C., 1973. A study of a pregnancy with low estrogen production due to placental sulfatase deficiency, J. Clin. Endocrinol. 36:1–9.

    CAS  Google Scholar 

  • François, J., 1970. Homocystinuria, in Perspectives in Opthalmology, II (J. E. Winkelman and R. A. Crone, eds), Excerpta Medica, Amsterdam, pp. 81–95.

    Google Scholar 

  • François, J., 1972. Ocular manifestations in aminoacidopathies, Adv. Opthalmol. 25:28–103.

    Google Scholar 

  • Freeman, J. M., Finkelstein, J. D., and Mudd, S. H., 1975. Folate-responsive homocystinuria and ‘schizophrenia’. A defect in methylation due to deficient 5,10-methylene tetrahydrofolate reductase activity, N. Engl. J. Med. 292:491–496.

    CAS  Google Scholar 

  • Frimpter, G. W., 1963. Cystinuria: Metabolism of the disulfide of cysteine and homocysteine, J. Clin. Invest. 42:1956–1964.

    PubMed  CAS  Google Scholar 

  • Frimpter, G. W., 1974. Cystathioninuria, in Heritable Disorders of Amino Acid Metabolism (W. L. Nyhan, ed), John Wiley, New York, pp. 452–466.

    Google Scholar 

  • Galjaard, H., 1980. Genetic Metabolic Diseases: Early Diagnosis and Prenatal Analysis, Elsevier/North-Holland Press, Amsterdam.

    Google Scholar 

  • Gaull, G. E., and Tallan, H. H., 1974. Methionine adenosyltransferase deficiency: New enzymatic defect associated with hypermethioninemia, Science 186:59–60.

    PubMed  CAS  Google Scholar 

  • Gaull, G. E., Wada, Y., Schneidman, K., Rassin, D. K., Tallan, H. H., and Sturman, J. A., 1971. Homocystinuria: Observations on the biosynthesis of cystathionine and homolanthionine, Pediai. Res. 5:265–273.

    Google Scholar 

  • Gaull, G. E., Sturman, J. A., and Schaffner, F., 1974. Homocystinuria due to cystathionine synthase deficiency: Enzymatic and ultrastructural studies, J. Pediai. 84:381–390.

    CAS  Google Scholar 

  • Gaull, G. E., Tallan, H. H., Lonsdale, D., Przyrembel, H., Schaffner, F., and von Bassewitz, D. B., 1981. Hypermethioninemia associated with methionine adenosyltransferase deficiency: Clinical, morphological and biochemical observations on four patients, J. Pediat. 98:734–741.

    CAS  Google Scholar 

  • Gauthier, R., Vigneault, N., Bleau, G., Chapdelaine, A., and Roberts, K. D., 1978. Solubilization and partial purification of steroid sulfatase of human placenta, Steroids 31:783–789.

    PubMed  CAS  Google Scholar 

  • Gerritsen, T., and Waisman, H.A., 1964a. Homocystinuria, an error in the metabolism of methionine, Pediatrics 33:413–420.

    PubMed  CAS  Google Scholar 

  • Gerritsen, T., and Waisman, H. A., 1964b. Homocystinuria: Absence of cystathionine in the brain, Science 145:588.

    PubMed  CAS  Google Scholar 

  • Gerritsen, T., Vaughn, J. G., and Waisman, H. A., 1962. The identification of homocystine in the urine, Biochem. Biophys. Res. Commun. 9:493–496.

    PubMed  CAS  Google Scholar 

  • Girardin, E. P., DeWolfe, M. S., and Crocker, J. F. S., 1979. Treatment of cystinosis with cysteamine, J. Pediat. 94:838–840.

    PubMed  CAS  Google Scholar 

  • Glössl, J., Truppe, W., and Kresse, H., 1979. Purification and properties of N-acetylgalactosamine 6-sulfate sulfatase from human placenta, Biochem. J. 181:37–46.

    PubMed  Google Scholar 

  • Goldman, H., Scriver, C. R., Aaron, K., Delvin, E., and Canlas, Z., 1971. Adolescent cystinosis: Comparisons with infantile and adult forms, Pediatrics 47:979–988.

    PubMed  CAS  Google Scholar 

  • Goodman, S. I., Mace, J. W., and Pollack, S., 1971. Serum γ-glutamyl transpeptidase deficiency, Lancet 1971:234–235.

    Google Scholar 

  • Griffith, O. W., and Meister, A., 1980. Excretion of cysteine and γ-glutamylcysteine moieties in human and experimental animal γ-glutamyl transpeptidase deficiency, Proc. Natl. Acad. Sci. USA 77:3384–3387.

    PubMed  CAS  Google Scholar 

  • Griffiths, R., and Tudball, N., 1977. The molecular defect in a case of (cystathionine ß-synthase) deficient homocystinuria, Eur. J. Biochem. 74:269–273.

    PubMed  CAS  Google Scholar 

  • Hagenfeldt, L., Larsson, A., and Zetterstrom, R., 1974. Pyroglutamic aciduria, Acta Paediat. Scand. 63:1–8.

    PubMed  CAS  Google Scholar 

  • Hall, C. W., Cantz, M., and Neufeld, E. F., 1973. A ß-glucuronidase deficiency mucopolysaccharidosis: Studies in cultured fibroblasts, Arch. Biochem. Biophys. 155:32–38.

    PubMed  CAS  Google Scholar 

  • Harker, L. A., Slichter, S. J., Scott, C. R., and Ross, R., 1974. Homocystinemia: Vascular injury and arterial thrombosis, N. Engl. J. Med. 291:537–543.

    PubMed  CAS  Google Scholar 

  • Harker, L. A., Ross, R., Slichter, S. J., and Scott, C. R., 1976. Homocystine-induced arteriosclerosis: The role of endothelial cell injury and platelet response in its genesis, J. Clin. Invest. 58:731–741.

    PubMed  CAS  Google Scholar 

  • Harkness, R. A., 1982. Current clinical problems in placental steroid or aryl sulfatase C deficiency and the related ‘cervical dystocia’ and X-linked ichthyosis, J. Inher. Metab. Dis. 5:142–144.

    CAS  Google Scholar 

  • Harris, E. D., and Sjoerdsma, A., 1966a. Collagen profile in various clinical conditions, Lancet 1966(ii):707–711.

    Google Scholar 

  • Harris, E. D., and Sjoerdsma, A., 1966b. Effect of penicillamine on human collagen and its possible application to the treatment of scleroderma, Lancet 1966(ii):996–999.

    Google Scholar 

  • Harris, H., Penrose, L. S., and Thomas, D. S. S., 1959. Cystathionuria, Ann. Hum. Genet. 23:442–453.

    PubMed  CAS  Google Scholar 

  • Higginbottom, M. C., Sweetman, L., and Nyhan, W. L., 1978. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian, N. Engl. J. Med. 299:317–323.

    PubMed  CAS  Google Scholar 

  • Hobbs, J. R., 1981. Bone marrow transplant for inborn errors of metabolism, Lancet 1981(ii):735–739.

    Google Scholar 

  • Hobbs, J. R., 1982. Bone marrow transplantation for some inborn errors, in Advances in the Treatment of Inborn Errors of Metabolism (M. d’A. Crawfurd, D. A. Gibbs, and R. W. E. Watts, eds), Wiley, Chichester, pp. 109–121.

    Google Scholar 

  • Hobbs, J. R., Hugh-Jones, K., Barrett, A. J., Byrom, N., Chambers, D., Henry, K., James, D. C. O., Lucas, C. F., Robers, T. R., Benson, P. F., Tansley, L. R., Patrick, A. D., Mossman, J., and Young, E. P., 1981. Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone marrow transplantation, Lancet 1981(ii):709–712.

    Google Scholar 

  • Hollister, D. W., Cohen, A. H., Remoin, D. L., and Silverberg, R., 1975. The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies, Johns Hopkins Med. J. 137:176–183.

    PubMed  CAS  Google Scholar 

  • Hopkins, I., Townley, R. R. W., and Shipman, R. T., 1969. Cerebral thrombosis in a patient with homocystinuria, J. Pediat. 75:1082–1083.

    PubMed  CAS  Google Scholar 

  • Jackson, S. H., 1973. The reaction of homocysteine with aldehyde: An explanation of the collagen defects in homocystinuria, Clin. Chim. Acta 45:215–217.

    PubMed  CAS  Google Scholar 

  • Jellum, E., Kluge, T., Borresen, H. C., Stokke, O., and Eldjarn, L., 1970. Pyroglutamic aciduria—a new inborn error of metabolism, Stand. J. Clin. Invest. 26:327–335.

    CAS  Google Scholar 

  • Johnson, J. J., and Rajagopalan, K. V., 1976. Human sulfite oxidase deficiency. Characterization of the molecular defect in a multicomponent system, J. Clin. Invest. 58:551–556.

    PubMed  CAS  Google Scholar 

  • Kajii, T., Matsuda, I., Oshaw, A. T., Katsunuma, H., Ichida, T., and Arashima, S., 1974. Hurler-Scheie genetic compound (mucopolysaccharidosis IH-IS) in Japanese brothers, Clin. Genet. 6:394–400.

    PubMed  CAS  Google Scholar 

  • Kanwar, Y. S., Manaligod, J. R., and Wong, P. W. K., 1976. Morphologic studies in a patient with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency, Pediat. Res. 10:598–609.

    PubMed  CAS  Google Scholar 

  • Kim, Y. J., and Rosenberg, C. E., 1974. On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine ß-synthase from cultured fibroblasts, Proc. Natl. Acad. Sci. USA 71:4821–4825.

    PubMed  CAS  Google Scholar 

  • Klein, U., Kresse, H., and von Figura, K., 1978. Sanfilippo syndrome type C: Deficiency of acetyl-CoA:α-glucosaminide N-acetyltransferase in skin fibroblasts, Proc. Natl. Acad. Sci. USA 75:5185–5189.

    PubMed  CAS  Google Scholar 

  • Kodama, H., 1971. Unusual sulfur-containing amino acids in the urine of homocystinuric patients. II. S-(ß-Carboxyethyl)homocysteine, S-(ß-carboxyethylthio)homocysteine, and S-(ß-carboxyethylthio)cysteine, Physiol. Chem. Phys. 3:159–167.

    CAS  Google Scholar 

  • Kodama, H., Mizuhara, S., Haraguchi, H., and Hirosawa, M., 1969. S-(l,2-Dicarboxyethyl)homocysteine in the urine of homocystinuric patients, Physiol. Chem. Phys. 1:600–603.

    CAS  Google Scholar 

  • Kodama, H., Ohmori, S., Suzuki, M., Mizuhara, S., Oura, T., Isshiki, G., and Uemura, I., 1971. Unusual sulfur-containing amino acids in the urine of homocystinuric patients. I. S-(3-Hydroxy-3-carboxy-η-propylthio)cysteine, S-(3-hydroxy-3-carboxy-η-propylthio) homocysteine, and S-(2-hydroxy-2-carboxyethylthio)homocysteine, Physiol. Chem. Phys. 3:81–92.

    CAS  Google Scholar 

  • Kodama, H., Ishimoto, Y., Shimomura, M., Hirota, T., and Ohmori, S., 1975. Isolation of two new sulfur-containing amino acids from the urine of a cystathioninuric patient, Physiol. Chem. Phys. 7:147–152.

    PubMed  CAS  Google Scholar 

  • Kolodny, E. H., and Moser, H. W., 1983. Sulfatide lipidosis: Metachromatic leukodystrophy, in The Metabolic Basis of Inherited Disease, 5th Ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds), McGraw-Hill, New York, pp. 881–905.

    Google Scholar 

  • Komrower, G. M., and Sardharwalla, I. B., 1971. The dietary treatment of homocystinuria, in Inherited Disorders of Sulphur Metabolism (N. A. J. Carson and D. N. Raine, eds) Churchill Livingstone, London, pp. 254–263.

    Google Scholar 

  • Konrad, P. N., Richards, F., Valentine, W. N., and Paglia, D., 1972. γ-Glutamylcysteine synthetase deficiency, TV. Engl. J. Med. 286:557–561.

    CAS  Google Scholar 

  • Koto, A., Horwitz, A. L., Suzuki, K., Tiffany, C. W., and Susuki, K., 1978. The Morquio syndrome: Neuropathology and biochemistry, Ann. Neurol. 4:26–36.

    PubMed  CAS  Google Scholar 

  • Kraus, S., Packman, S., Fowler, B., and Rosenberg, L. E., 1978. Purification and properties of cystathionine ß-synthase from human liver, J. Biol. Chem. 253:6523–6528.

    PubMed  CAS  Google Scholar 

  • Kresse, H., 1973. Mucopolysaccharidosis IIIA (Sanfilippo A disease): Deficiency of heparin sulfamidase in skin fibroblasts and leucocytes, Biochem. Biophys. Res. Commun. 54:1111–1118.

    PubMed  CAS  Google Scholar 

  • Kresse, H., Weismann, U., Cantz, M., Hall, C. W., and Neufeld, E. F., 1971. Biochemical heterogeneity of the Sanfilippo syndrome, Biochem. Biophys. Res. Commun. 42:892–898.

    PubMed  CAS  Google Scholar 

  • Kresse, H., von Figura, K., and Klein, U., 1978. New biochemical subtype of the Sanfilippo syndrome: Characterization of the storage material in cultured fibroblasts of Sanfilippo C patients, Eur. J. Biochem. 92:333–339.

    PubMed  CAS  Google Scholar 

  • Kresse, H., Paschke, E., von Figura, K., Gilberg, W., and Fuchs, W., 1980. Sanfilippo disease type D; deficiency of N-acetylglucosamine 6-sulfate sulfatase required for heparan sulfate degradation, Proc. Natl. Acad. Sci. USA 77:6822–6826.

    PubMed  CAS  Google Scholar 

  • Kroll, W. A., and Lichte, K. H., 1973. Cystinosis: A review of the different forms and of recent advances, Humangenetik 20:75–87.

    PubMed  CAS  Google Scholar 

  • Larsson, A., Mattsson, B., Wauters, E. A. K., Van Gool, J. D., Duran, M., and Wadman, S. K., 1980. 5-Oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers—a new inborn error of the γ-glutamyl cycle, Acta Paediat. Scand. 70:301–308.

    Google Scholar 

  • Lehman, W. D., Wolf, A. S., and Lauritzen, C., 1978. Klinische und biochemische Untersuchungen bei drei graviden Patientinnen mit placentarem Sulfatasemangel, Arch. Gynak. 225:43–50.

    Google Scholar 

  • Levy, H. L., 1973. Genetic screening, in Advances in Human Genetics, Vol. 4 (H. Harris, and K. Hirschhorn, eds), Plenum Press, New York, pp. 1–104.

    Google Scholar 

  • Levy, H. L., Mudd, S. H., Schulman, J. D., Dreyfuss, P. M., and Abels, R. H., 1970. Derangement in vitamin B12 metabolism associated with homocystinuria, cystathioninemia and methylmalonic aciduria, Am. J. Med. 48:390–397.

    PubMed  CAS  Google Scholar 

  • Levy, H. L., Mudd, S. H., and Madigan, P. M., 1973. Pyridoxine-unresponsive cystathioninemia, Pediat. Res. 7:390.

    Google Scholar 

  • Lim, T. W., Leder, J. G., Bach, G., and Neufeld, E., 1974. Assay for iduronate sulfatase (Hunter corrective factor), Carbohydr. Res. 37:103–109.

    PubMed  CAS  Google Scholar 

  • Linnell, J. C., Matthews, D. M., Mudd, S. H., Uhlendorf, B. W., and Wise, I. J., 1976. Cobalamins in fibroblasts cultured from normal control subjects and patients with methylmalonic aciduria, Pediat. Res. 10:179–183.

    PubMed  CAS  Google Scholar 

  • Lombardini, J. B., Chou, T. C., and Talalay, P., 1973. Regulatory properties of adenosine triphosphate-L-methionine S-adenosyltransferase of rat liver, Biochem. J. 135:43–57.

    PubMed  CAS  Google Scholar 

  • Longhi, R. C., Fleisher, L. D., Tallan, H. H., and Gaull, G. E., 1977. Cystathionine ß- synthase deficiency: A qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy, Pediat. Res. 11:100–103.

    PubMed  CAS  Google Scholar 

  • Lowry, R. B., and Renwick, D. H. G., 1971. The relative frequency of the Hurler and Hunter syndromes, N. Engl. J. Med. 284:221.

    PubMed  CAS  Google Scholar 

  • Lyon, I. C. T., Procopis, P. G., and Turner, B., 1971. Cystathioninuria in a well baby population, Acta Paediat. Scand. 60:324–328.

    PubMed  CAS  Google Scholar 

  • Mahoney, M. J., Rosenberg, L. E., Mudd, S. H., and Uhlendorf, B. W., 1971. Defective metabolism of vitamin B12 in fibroblasts from children with methylmalonic aciduria, Biochem. Biophys. Res. Commun. 44:375–381.

    PubMed  CAS  Google Scholar 

  • Matalon, R., 1985. The mucopolysaccharidoses: Newly described enzyme defects and prospects for treatment, in Congential Metabolic Disorders (R. A. Wapnis, ed), Marcel Dekker, New York, pp. 253–265.

    Google Scholar 

  • Matalon, R., and Deanching, M., 1977. The enzymic basis for the phenotypic variation of Hurler and Scheie syndromes, Pediat. Res. 11:519.

    Google Scholar 

  • Matalon, R., and Dorfman, A., 1974. Sanfilippo A syndrome: Sulfamidase deficiency in cultured skin fibroblasts and liver, J. Clin. Invest. 54:907–912.

    PubMed  CAS  Google Scholar 

  • Matalon, R., Arbogast, B., Justice, P., Brandt, J. K., and Dorfman, A., 1974. Morquio’s syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase, Biochem. Biophys. Res. Commun. 61:759–765.

    PubMed  CAS  Google Scholar 

  • Mathew, J., and Balasubramanian, A. S., 1982. Arylsulfatase C and estrone sulfatase of sheep hypothalamus, preoptic area, and midbrain: Separation by hydrophobic interaction chromatography and evidence for differences in their lipid environment, J. Neurochem. 39:1205–1209.

    PubMed  CAS  Google Scholar 

  • McKee, J. W. A., Abeysekera, R., and France, J. T., 1981. Studies of the biochemical basis of steroid sulphatase deficiency II. A finding of decreased phospholipid content in sulphatase deficient microsomes, J. Steroid Biochem. 14:195–198.

    PubMed  CAS  Google Scholar 

  • McKully, K. S., 1970. Importance of homocysteine-induced abnormalities of proteoglycan structure in arteriosclerosis, Ann. J. Pathol. 59:181–190.

    Google Scholar 

  • McKully, K. S., and Ragsdale, B. D., 1970. Production of arteriosclerosis in homocysteinemia, Am. J. Pathol. 61:1–8.

    Google Scholar 

  • McKusick, V. A., 1972. Heritable Disorders of Connective Tissue, 4th. Ed., Mosby, St. Louis.

    Google Scholar 

  • McKusick, V. A., and Neufeld, E. F., 1983. The mucopolysaccharide storage diseases, in The Metabolic Basis of Inherited Disease, 5th Ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds), McGraw-Hill, New York, pp. 751–777.

    Google Scholar 

  • McKusick, V. A., Hall, J. G., and Char, F., 1971. The clinical and genetic characteristics of homocystinuria, in Inherited Disorders of Sulphur Metabolism (N. A. J. Carson and D. N. Raine, eds), Churchill Livingstone, Edinburgh, pp. 179–203.

    Google Scholar 

  • McNaught, R. W., and France, J. T., 1980. Studies on the biochemical basis of steroid sulfatase deficiency: Preliminary evidence suggesting a defect in membrane-enzyme structure, J. Steroid Biochem. 13:363–373.

    PubMed  CAS  Google Scholar 

  • Mehl, E., and Jatzkewitz, H., 1965. Evidence for the genetic block in metachromatic leukodystrophy, Biochem. Biophys. Res. Commun. 19:407–411.

    PubMed  CAS  Google Scholar 

  • Meister, A., 1984. New aspects of glutathione biochemistry and transport: Selective alteration of glutathione metabolism, Fed. Proc. 43:3031–3042.

    PubMed  CAS  Google Scholar 

  • Meister, A., and Anderson, M. E., 1983. Glutathione, Annu. Rev. Biochem. 52:711–760.

    PubMed  CAS  Google Scholar 

  • Milne, M. D., Crawford, M. A., Girao, C. B., and Loughridge, L. W., 1960. The metabolic disorder in Hartnup disease, Quart. J. Med. 29:407–421.

    PubMed  CAS  Google Scholar 

  • Mohandas, T., Shapiro, L. J., Sparkes, R. S., and Sparkes, M. C., 1979. Regional assignment of the steroid sulfatase X-linked ichthyosis locus: Implications for a non-inactivated region on the short arm of the human X-chromosome, Proc. Natl. Acad. Sci. USA 76:5779–5786.

    PubMed  CAS  Google Scholar 

  • Mohler, D. N., Majerus, P. W., Minnich, V., Hess, C. E., and Garrick, M. D., 1970. Glutathione synthetase deficiency as a cause of hereditary hemolytic disease, N. Engl. J. Med. 283:1253–1257.

    PubMed  CAS  Google Scholar 

  • Mudd, S. H., 1974. Homocystinuria and homocysteine metabolism: Selected aspects, in Heritable Disorders of Aminoacid Metabolism (W. L. Nynan, ed), John Wiley, New York, pp. 429–451.

    Google Scholar 

  • Mudd, S. H., 1985. Vascular disease and homocysteine metabolism, N. Engl. J. Med. 313:751–753.

    PubMed  CAS  Google Scholar 

  • Mudd, S. H., and Levy, H. L., 1978. Disorders of transsulfuration, in The Metabolic Basis of Inherited Disease, 4th Ed. (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds), McGraw-Hill, New York, pp. 458–503.

    Google Scholar 

  • Mudd, S. H., and Levy, H. L., 1983. Disorders of transsulfuration, in The Metabolic Basis of Inherited Disease, 5th Ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds), McGraw-Hill, New York, pp. 522–559.

    Google Scholar 

  • Mudd, S. H., Finkelstein, J. D., lrreverre, F., and Laster, L., 1964. Homocystinuria, an enzymatic defect, Science 143:4382–4392.

    Google Scholar 

  • Mudd, S. H., Edwards, W. A., Loeb, P. M., Brown, M. S., and Laster, L., 1970. Homocystinuria due to cystathionine synthase deficiency: The effect of pyridoxine, J. Clin. Invest. 49:1762–1773.

    PubMed  CAS  Google Scholar 

  • Mudd, S. H., Uhlendorf, B. W., Freeman, J. M., Finkelstein, J. D., and Shih, V. E., 1972. Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity, Biochem. Biophys. Res. Commun. 46:905–912.

    PubMed  CAS  Google Scholar 

  • Mudd, S. H., Skovby, F., Levy, H. L., and others, 1985. The natural history of homocystinuria due to cystathionine ß-synthase deficiency, Am. J. Hum. Genet. 37:1–31.

    PubMed  CAS  Google Scholar 

  • Müller, C. R., Westerveld, A., Migl, B. S., Franke, W., and Ropers, H. H., 1980. Regional assignment of the gene locus for steroid sulfatase, Hum. Genet. 54:197–199.

    PubMed  Google Scholar 

  • Murphy, J. V., Wolfe, H. J., Balazs, E. A., and Moser, H. W., 1971. A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase associated with storage of sulfatide, cholesterol sulfate, and glycosaminoglycans, in Lipid Storage Diseases: Enzymatic Defects and Clinical Implications (J. Bernsohn and H. J. Grossman, eds), Academic Press, New York, pp. 67–110.

    Google Scholar 

  • Neufeld, E. F., 1974. The biochemical basis for mucopolysaccharidoses and mucolipidoses, in Progress in Medical Genetics, Vol. X (A. G. Steinberg and A. G. Beam, eds), Grune and Stratton, New York, pp. 81–101.

    Google Scholar 

  • Neufeld, E. F., Lim, T. W., and Shapiro, L. J., 1975. Inherited disorders of lysosomal metabolism, Annu. Rev. Biochem. 44:357–376.

    PubMed  CAS  Google Scholar 

  • Neuwelt, E., Köhler, P. F., and Austin, J., 1973. Primary enzyme immunoassay (PEIA): Studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase A), Immunochemistry 10:767–773.

    PubMed  CAS  Google Scholar 

  • Oakley, R. E., 1978. Placental sulfatase deficiency: Antepartum differential diagnosis from foetal adrenal hypoplasia, Clin. Endocrinol. 9:81–88.

    Google Scholar 

  • O’Brien, J. S., 1972. Sanfilippo syndrome: Profound deficiency of α-acetylglucosaminidase activity in organs and skin fibroblasts from type B patients, Proc. Natl. Acad. Sci. USA 69:1720–1722.

    PubMed  Google Scholar 

  • O’Brien, J. S., Gugler, E., Giedion, A., Wiesmann, R., Herschkowitz, N., Meier, C., and Leroy, J. G., 1976. Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid ß-galactosidase deficiency, Clin. Genet. 9:495–504.

    PubMed  Google Scholar 

  • Ohmori, S., Kodama, H., Ikegami, T., Mizuhara, S., Oura, T., Isshiki, G., and Uemura, I., 1972. Unusual sulfur containing amino acids in the urine of homocystinuric patients. III. Homocysteic acid, S-(carboxymethylthio)homocysteine, and S-(3-hydroxy-3-carboxy-77-propyl)homocysteine, Physiol. Chem. Phys. 4:286–294.

    CAS  Google Scholar 

  • Park, Y. K., and Linkswiler, H., 1970. Effect of vitamin B6-depletion in adult man on the excretion of cystathionine and other methionine metabolites, J. Nutr. 100:110–116.

    PubMed  CAS  Google Scholar 

  • Pascal, T., Gaull, G. E., Beratis, N. G., Gillam, B.M., Tallan, H. H., and Hirschhorn, K., 1975. Vitamin B6-responsive and-unresponsive cystathioninuria: Two variant molecular forms, Science 190:1209–1211.

    PubMed  CAS  Google Scholar 

  • Perry, T. L., 1971. Unusual sulphur-containing amino acids in homocystinuria, in Inherited Disorders of Sulphur Metabolism (N. A. J. Carson and D. N. Raine, eds), Churchill Livingstone, Edinburgh, pp. 224–231.

    Google Scholar 

  • Perry, T. L., 1974. Homocystinuria, In Heritable Disorders of Aminoacid Metabolism (W. L. Nyhan, ed), John Wiley, New York, pp. 395–428.

    Google Scholar 

  • Perry, T. L., Hansen, S., McDougall, L., and Warrington, P. D., 1967. Sulfur containing aminoacids in the plasma and urine of homocystinurics, Clin. Chim. Acta 15:409–420.

    PubMed  CAS  Google Scholar 

  • Perry, T. L., Hansen, S., Love, D., and Finch, C. A., 1968a. N-Acetylcystathionine, a new urinary aminoacid in congenital cystathioninuria, Nature 219:178–179.

    PubMed  CAS  Google Scholar 

  • Perry, T. L., Hansen, S., Love, D. L., Crawford, L. E., and Tischler, B., 1968b. Treatment of homocystinuria with a low methionine diet, supplemental cystine and a methyl donor, Lancet 1968(ii):474–478.

    Google Scholar 

  • Pocecco, M., and Tonini, G., 1981. Cysteamine therapy in nephropathic cystinosis, N. Engl. J. Med. 304:1172.

    Google Scholar 

  • Poole, J. R., Mudd, S. H., Conerby, E. B., and Edwards, W. A., 1975. Homocystinuria due to cystathionine synthase deficiency: Studies of nitrogen balance and sulfur excretion, J. Clin. Invest. 55:1033–1048.

    PubMed  CAS  Google Scholar 

  • Porath, U., and Schreier, K. L., 1978. Eine Familie mit Pyroglutaminacidurie, Dtsch. Med. Wschr. 103:939–942.

    PubMed  CAS  Google Scholar 

  • Prins, H. K., Oort, M., Loos, J. A., Zürcher, C., and Beckers, T., 1966. Congenital nonspherocytic hemolytic anemia associated with glutathione deficiency of the erythrocytes, Blood J. Hematol. 27:145–166.

    CAS  Google Scholar 

  • Purpura, D., and Suzuki K., 1976. Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease, Brain Res. 116:1–21.

    PubMed  CAS  Google Scholar 

  • Richards, F., Cooper, M. R., Pearce, L.A., Cowan, R. J., and Spurr, C. L., 1974. Familial spinocerebellar degeneration, hemolytic anemia, and glutathione deficiency, Arch. Intern. Med. 124:534–537.

    Google Scholar 

  • Richman, P., and Meister, A., 1975. Regulation of γ-glutamylcysteine synthetase by non-allosteric feedback inhibition of glutathione, J. Biol. Chem. 250:1422–1426.

    PubMed  CAS  Google Scholar 

  • Roberts, K. D., and Lieberman, S., 1970. The biochemistry of the 3-hydroxyl-Δ5-steroid sulfates, in Chemical and Biological Aspects of Steroid Conjugation (S. Bernstein and S. Soloman, eds), Springer-Verlag, New York, pp. 219–290.

    Google Scholar 

  • Rose, F. A., 1982. The mammalian sulfatases and placental sulfatase deficiency in man, J. Inher. Metab. Dis. 5:145–152.

    PubMed  CAS  Google Scholar 

  • Rosenberg, L. E., 1978. Disorders of propionate, methylmalonate and cobalamin metabolism, in The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds), McGraw-Hill, New York, pp. 411–429.

    Google Scholar 

  • Roy, A. B., 1977. Sulphatase déficiences, in The Cultured Cell and Inherited Metabolic Disease (R. A. Harkness and R. Coburn, eds), M.T.P. Press, pp. 120-138.

    Google Scholar 

  • Sardharwalla, I. B., Jackson, S. H., Hawke, H. D., and Sass-Kortsak, A., 1968. Homocystinuria: A study with low methionine-diet in three patients, Can. Med. Assoc. J. 99:731–740.

    PubMed  CAS  Google Scholar 

  • Schimke, R. N., McKusick, V. A., Huang, T., and Pollack, A. D., 1965. Homocystinuria. Studies of 20 families with 38 affected members, J. Am. Med. Assoc. 193:711–719.

    CAS  Google Scholar 

  • Schneider, J. A., Wong, V., Bradley, K., and Seegmiller, J. E., 1968. Biochemical comparisons of the adult and childhood forms of cystinosis, N. Engl. J. Med. 279:1253–1257.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Wong, V., and Seegmiller, J. E., 1969. The early diagnosis of cystinosis, J. Pediat. 74:114–116.

    PubMed  CAS  Google Scholar 

  • Schneider, J. A., Schulman, J. D., and Seegmiller, J. E., 1978. Cystinosis and the Fanconi syndrome, in Metabolic Basis of Inherited Disease, 4th Ed. (J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, eds), McGraw-Hill, New York, pp. 1660–1682.

    Google Scholar 

  • Schneider, J. A., Schlesselmann, J. J., Mendoza, S. A., and others, 1979. Ineffectiveness of ascorbic acid therapy in nephropathic cystinosis, N. Engl. J. Med. 300:756–759.

    PubMed  CAS  Google Scholar 

  • Schulman, J. D., and Schneider, J. A., 1983. Cystinosis, in The Metabolic Basis of Inherited Disease, 5th. Ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L., Goldstein, and M. S. Brown, eds), McGraw-Hill, New York, pp. 1844–1866.

    Google Scholar 

  • Schulman, J. D., Schneider, J. A., Bradley, K. H., and Seegmiller, J. E., 1971. Cystine, cysteine and glutathione metabolism in normal and cystinotic fibroblasts in vitro and in cultured amniotic fluid cells, Clin. Chim. Acta 35:383–388.

    PubMed  CAS  Google Scholar 

  • Schulman, J. D., Goodman, S. I., Mace, J. W., Patrick, A. D., Tietze, F., and Butler, E. J., 1975. Glutathionuria: Inborn error of metabolism due to tissue deficiency of γ-glutamyl transpeptidase, Biochem. Biophys. Res. Commun. 65:68–74.

    PubMed  CAS  Google Scholar 

  • Scriver, C. R., and Hutchison, J. H., 1963. The vitamin B6 deficiency syndrome in human infancy: Biochemical and clinical observations, Pediatrics 31:240–250.

    PubMed  CAS  Google Scholar 

  • Scriver, C. R., and Rosenberg, L., 1973. Amino Acid Metabolism and Its Disorders, W. B. Saunders, Philadelphia.

    Google Scholar 

  • Seashore, M. R., Durant, J. L., and Rosenberg, L. E., 1972. Studies on the mechanism of pyridoxine-responsive homocystinuria, Pediat. Res. 6:187–196.

    PubMed  CAS  Google Scholar 

  • Segal, S., 1985. Cystinuria as a membrane transport disorder, in Congenital Metabolic Diseases (R. A. Wapner, ed), Marcel Dekker, New York, pp. 335–345.

    Google Scholar 

  • Segal, S., and Thier, S. O., 1983. Cystinuria, in The Metabolic Basis of Inherited Disease, 5th. Ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds), McGraw-Hill, New York, pp. 1774–1791.

    Google Scholar 

  • Shapira, E., and Nadler, H. L., 1975. The nature of the residual arylsulfatase activity in metachromatic leukodystrophy, J. Pediat. 86:881–884.

    PubMed  CAS  Google Scholar 

  • Shapira, E., Degregorio, R. R., Matalon, R., and Nadler, H. L., 1975. Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome, Biochem. Biophys. Res. Commun. 62:448–455.

    PubMed  CAS  Google Scholar 

  • Shapiro, L. J., 1983. Steroid sulfatase deficiency and X-linked ichthyosis, in The Metabolic Basis of Inherited Disease, 5th Ed. (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds), McGraw-Hill, New York, pp. 1027–1041.

    Google Scholar 

  • Shapiro, L. J., 1985. Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome, Adv. Hum. Genet. 14:331–381.

    PubMed  CAS  Google Scholar 

  • Shapiro, L. J., and Mohandas, T., 1980. Molecular genetics of X-linked ichthyosis, Pediat. Res. 14:527.

    Google Scholar 

  • Shapiro, L. J., Cousins, L., Fluharty, A. L., Stevens, R. L., and Kihara, H., 1977. Steroid sulfatase deficiency, Pediat. Res. 11:894–897.

    CAS  Google Scholar 

  • Shapiro, L. J., Weiss, R., Buxman, M. M., Vidgoff, J., Dimond, R. L., Roller, J. A., and Wells, R. S., 1978. Enzymatic basis of typical X-linked ichthyosis, Lancet 1978(H):756–757.

    Google Scholar 

  • Shapiro, L. J., Aleck, K. A., Kaback, M. M., Itabashi, H., Desnick, R. J., Brand, N., Stevens, R. L., Fluharty, A. L., and Kihara, H., 1979. Metachromatic leukodystrophy without arylsulfatase A deficiency, Pediat. Res. 13:1179–1181.

    PubMed  CAS  Google Scholar 

  • Sherlock, P. C., Robins, A. J., and Komrower, G. M., 1973. A homocysteine-containing peptide in homocystinuric urine, Biochem. Soc. Trans. 1:213–214.

    CAS  Google Scholar 

  • Shih, V. E., Salam, M. Z., and Mudd, S. H., 1972. A new form of homocystinuria due to N 5-10-methylenetetrahydrofolate reductase deficiency, Pediat. Res. 6:135.

    Google Scholar 

  • Shih, V. E., Abrams, I. F., Johnson, J. L., Carney, M., Mandell, R., Robb, R. M., Cloherty, J. P., and Rajagopalan, K. V., 1977. Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism, N. Engl. J. Med. 297:1022–1028.

    PubMed  CAS  Google Scholar 

  • Singh, J., DiFerrante, N., Niebes, P., and Tavella, D., 1976. N-Acetylgalactosamine-ö-sulfate sulfatase in man. Absence of the enzyme in Morquio disease, J. Clin. Invest. 57:1036–1040.

    PubMed  CAS  Google Scholar 

  • Sjöberg, I., Fransson, L., Matalon, R., and Dorfman, A., 1973. Hunter’s syndrome: a deficiency of L-idurono-sulfate sulfatase, Biochem. Biophys. Res. Commun. 54:1125–1132.

    PubMed  Google Scholar 

  • Sly, W. S., Quinton, B. A., McAlister, W. H., and Rimoin, D. L., 1973. ß-Glucuronidase deficiency: Report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis, J. Pediat. 82:249–257.

    CAS  Google Scholar 

  • Spaeth, G. L., and Barber, G. W., 1965. Homocystinuria in a mentally retarded child and her normal cousin, Trans. Am. Acad. Opthamol. Oto-laryngol. 69:912–930.

    CAS  Google Scholar 

  • Spaeth, G. L., and Barber, G. W., 1967. Prevalence of homocystinuria among the mentally retarded: Evaluation of a specific screening test, Pediatrics 40:586–589.

    PubMed  CAS  Google Scholar 

  • Spielberg, S. P., Kramer, L. I., Goodman, S. I., Butler, J., Tietze, F., Quinn, P., and Schulman, J. D., 1977. 5-Oxoprolinuria: Biochemical observations and case report, J. Pediat. 91:237–241.

    CAS  Google Scholar 

  • Spielberg, S. P., Garrick, M. D., Corash, L. M., Butler, J. de B., Tietze, F., Rogers, L. V., and Schulman, J. D., 1978. Biochemical heterogeneity in glutathione synthetase deficiency, J. Clin. Invest. 61:1417–1420.

    PubMed  CAS  Google Scholar 

  • Steinmann, B., Mieth, D., and Gitzelmann, R., 1981. A newly recognized cause of low urinary estriol in pregnancy: Multiple sulfatase deficiency of the fetus, Gynecol. Obstet. Invest. 12:107–109.

    PubMed  CAS  Google Scholar 

  • Stumpf, D. A., Austin, J. H., Crocker, A. C., and LaFrance, M., 1973. Mucopolysaccharidosis type IV (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues, Am. J. Dis. Child 126:747–755.

    PubMed  CAS  Google Scholar 

  • Sturman, J. A., 1978. Vitamin B6 and the metabolism of sulfur amino acids, in Human Vitamin B 6 Requirements, National Academy of Sciences, Washington, D.C., pp. 37–60.

    Google Scholar 

  • Tager, J. M., 1985. Biosynthesis and deficiency of lysosomal enzymes, Trends Biochem. Sci. 10:324–326.

    CAS  Google Scholar 

  • Tallan, H. H., Pascal, T. A., Schneidman, K., Giliam, B. M., and Gaull, G. E., 1971. Homolanthionine synthesis by human liver cystathionase, Biochem. Biophys. Res. Commun. 43:303–310.

    CAS  Google Scholar 

  • Tate, S. S., and Meister, A., 1974. Interaction of γ-glutamyl transpeptidase with amino acids, dipeptides, and derivatives and analogs of glutathione, J. Biol. Chem. 249:7593–7602.

    PubMed  CAS  Google Scholar 

  • Taylor, N. F., 1982. Placental sulfatase deficiency, J. Inherited Metab. Dis. 5:164–176.

    PubMed  CAS  Google Scholar 

  • Taylor, N. F., and Shackleton, C. H. F., 1979. Gas chromatographic steroid analysis for diagnosis of placental steroid deficiency: A study of nine patients, J. Clin. Endocrinol. Metab. 49:78–86.

    PubMed  CAS  Google Scholar 

  • Thier, S. O., and Segal, S., 1978. Cystinuria, in The Metabolic Basis of Inherited Disease, 4th Ed. (J. B. Stanbury, J. B. Wyngaarden, and D. S. Frederickson, eds), McGraw-Hill, New York, pp. 1578–1592.

    Google Scholar 

  • Thoene, J. G., 1984. New approaches in the medical treatment of cystinosis, in Pediatric Nephrology (J. Brodehl and J. H. H. Ehrich, eds), Springer-Verlag, Berlin, pp. 168–171.

    Google Scholar 

  • Thoene, J. G., and Lemons, R., 1980. Cystine depletion of cystinotic tissues by phosphocysteamine (WR 638), J. Pediat. 96;1043–1044.

    PubMed  CAS  Google Scholar 

  • Thoene, J. G., Oshima, R. G., Crawhall, J. C., and Schneider, J. A., 1976. Cystinosis: Intracellular cystine depletion by aminothiols in vitro and in vivo, J. Clin. Invest. 58:180–189.

    PubMed  CAS  Google Scholar 

  • Traupe, H., and Happle, R., 1983. Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism, Eur. J. Pediat. 140:19–21.

    CAS  Google Scholar 

  • Uhlendorf, B. W., Conerly, E. B., and Mudd, S. H., 1973. Homocystinuria: Studies in tissue culture, Pediat. Res. 7:645–658.

    PubMed  CAS  Google Scholar 

  • von Figura, K., 1977. Human α-N-acetylglucosaminidase, Eur. J. Biochem. 80:525–533.

    Google Scholar 

  • von Figura, K., and Kresse, H., 1976. Sanfilippo disease type B: Presence of material cross reacting with antibodies against N-acetylglucosaminidase, Eur. J. Biochem. 61:581–588.

    Google Scholar 

  • Wada, Y., Narisawa, K., and Arakawa, T., 1978. Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency, Monogr. Hum. Genet. 9:140–146.

    PubMed  CAS  Google Scholar 

  • Wellner, V. P., Sekura, R., Meister, A., and Larsson, A., 1974. Glutathione synthetase deficiency, an inborn error of metabolism involving the γ-glutamyl cycle in patients with 5-oxoprolinuria(pyroglutamic aciduria), Proc. Natl. Acad. Sci. USA 71:2505–2509.

    PubMed  CAS  Google Scholar 

  • Werder, E. A., Curtis, H. C., Tancredi, F., Anders, P. W., and Prader, A., 1966. Homocystinurie, Helv. Pediat. Acta 21:1–18.

    CAS  Google Scholar 

  • Wong, P. K., Justice, D., and Berlow, S., 1977a. Detection of homozygotes and hétérozygotes with methylenetetrahydrofolate reductase deficiency. J. Lab. Clin. Med. 90:283–288.

    PubMed  CAS  Google Scholar 

  • Wong, P. K., Justice, D., Hruby, M., Weiss, E. B., and Diamond, E., 1977b. Folic acid non-responsive homocystinuria due to methylenetetrahydrofolate reductase deficiency, Pediatrics 59:749–756.

    PubMed  CAS  Google Scholar 

  • Wright, E. C., Stern, J., Ersser, R., and Patrick, A. D., 1979. Glutathionuria: γ-Glutamyl transpeptidase deficiency, J. Inher. Metab. Dis. 2:3–7.

    CAS  Google Scholar 

  • Yamashina, I., Yoshida, H., Fukui, S., and Funakoshi, I., 1983. Biochemical studies on Lowe’s syndrome, Mol. Cell. Biochem. 52:107–124.

    PubMed  CAS  Google Scholar 

  • Yeh, H. L., Frank, W., Dunn, M. S., Parker, P., Hugher, B., and Gyorgy, P., 1947. The urinary excretion of amino acids by a cystinuric subject, Am. J. Med. Sci. 214:507–512.

    PubMed  CAS  Google Scholar 

  • Yudkoff, M., Foreman, J. W., and Segal, S., 1981. Effects of cysteamine therapy in nephropathic cystinosis, N. Engl. J. Med. 304:141–145.

    PubMed  CAS  Google Scholar 

  • Zimmerman, T. J., Hood, C. I., and Gasset, A. R., 1974. ‘Adolescent’ cystinosis: A case presentation and review of the recent literature, Arch. Opthalmol (Chicago) 92:265–268.

    CAS  Google Scholar 

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  1. University of Arizona Health Sciences Center, Tucson, Arizona, USA

    Ryan J. Huxtable

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Huxtable, R.J. (1986). Inherited Disorders of Sulfur Metabolism. In: Biochemistry of Sulfur. Biochemistry of the Elements, vol 6. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-9438-0_8

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  • DOI: https://doi.org/10.1007/978-1-4757-9438-0_8

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