Advertisement

Homocystinuria and Other Methioninemias

  • D. H. H. Pullon

Abstract

Homocystinuria due to cystathionine synthase deficiency has been quoted as having a frequency of 1 : 50 000 to 1 : 150 000 of the population [24]. This figure is in keeping with that of Carson of Northern Ireland, where the condition seems most common [7]. It is said to account for 5% of patients with ectopia lentis, and to occur not only in cases of European origin, but also in United States negroes, in Japan, and in India. Over 100 cases have been reported [33].

Keywords

Mass Screening Ocular Lens Methyl Malonic Acidemia Methionine Adenosyl Transferase Phenyl Pyruvic Acid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Aminoacid content of foods (1970) Food and Agricultural Organisation of the United Nations Rome, p 130Google Scholar
  2. 2.
    Barber GW, Spaeth GL (1967) Pyridoxine therapy in homocystinuria. Lancet 1:337CrossRefGoogle Scholar
  3. 3.
    Beckers RG, Wamberg E, Bickel H, Schmid-Ruter E, Feingold J, Cahalane SR, Bottini I, Jonxis JHP, Colombo JP, Carson N (1973) Collective results of mass screening for inborn metabolic errors in eight european countries. Acta Paediat Scand 62:413–416CrossRefGoogle Scholar
  4. 4.
    Bowes AP, Church CF (1975) In: Food values of portions commonly used, 12th edn. Lippincott, Philadelphia, pp 24–25Google Scholar
  5. 5.
    Cahalane SF (1978) Personal communicationGoogle Scholar
  6. 6.
    Carey MC, Fennelly JJ, Fitzgerald O (1968) Homocystinuria II. Subnormal serum folate levels, increased folate clearance, and effects of folic acid therapy. Am J Med 45:26–31PubMedCrossRefGoogle Scholar
  7. 7.
    Carson NAJ (1970) Homocystinuria. Proc R Soc Med 63:41–43PubMedGoogle Scholar
  8. 8.
    Carson NAJ (1978) Personal communicationGoogle Scholar
  9. 9.
    Clow C, Scriver CR, Davies E (1969) Results of mass screening for hyperaminoacidemias in the newborn infant. Am J Dis Child 117:48–53PubMedGoogle Scholar
  10. 10.
    Dillon MJ, England JM, Gompertz D, Goodey PA, Grant DB, Hussein HA-A, Linnell JC, Mathews DM, Mudd SH, Newns GH, Seakins JWT, Uhlendorf BW, Wise IJ, (1974) Mental retardation, megaloblastic anaemia, methyl malonic aciduria, and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism. Clin Sci Mol Med 47:43–61PubMedGoogle Scholar
  11. 11.
    Freeman JM, Finkelstein JD, Mudd SH (1975) Folate-responsive homocystinuria and “schizophrenia”. N Engl J Med 292:491–496PubMedCrossRefGoogle Scholar
  12. 12.
    Gaull GE (1974) Methionine adenosyltransferase deficiency: New enzymatic defect associated with hypermethioninemia. Science 186:59–60PubMedCrossRefGoogle Scholar
  13. 13.
    Gaull GE (1972) Homocystinuria, vitamin B6, and folate: Metabolic interrelationships and clinical significance, J Pediatr 81:1014–1018PubMedCrossRefGoogle Scholar
  14. 14.
    Goodman SI, Moe PG, Hammond KB, Mudd SH, Uhlendorf BW (1970) Homocystinuria with methyl malonic aciduria: Two cases in a sibship. Biochem Med 4:500–515PubMedCrossRefGoogle Scholar
  15. 15.
    Guthrie R, Susi A (1963) A simple phenylalanine method for detection of phenylketonuria in large population of newborn infants. Pediatrics 32:338–343PubMedGoogle Scholar
  16. 16.
    Guthrie R (1969) Personal communicationGoogle Scholar
  17. 17.
    Guthrie R (1974) Personal communicationGoogle Scholar
  18. 18.
    Harker LA, Slichter SJ, Scott CR, Ross R (1974) Homocystinemia, vascular injury and arterial thrombosis. N Engl J Med 291:537–543PubMedCrossRefGoogle Scholar
  19. 19.
    Harker LA, Scott CR (1977) Platelets in homocystinuria. N Engl J Med 296:818PubMedGoogle Scholar
  20. 20.
    Harris ED, Jr, Sjoerdsma A (1966) Collagen profile in various clinical conditions. Lancet 2:707–710PubMedCrossRefGoogle Scholar
  21. 21.
    Hollowell JG, Hall WK, Coryell ME, McPherson J, Hahn DA (1969) Homocystinuria and organic aciduria in a patient with vitamin B12 deficiency. Lancet 2:1428PubMedCrossRefGoogle Scholar
  22. 22.
    Hyanek J, Bremer HJ, Slavik M (1969) ‘Homocystinuria’ and urinary excretion of β-aminoacids in patients treated with 6-azauridine. Clin Chim Acta 25:288–290PubMedCrossRefGoogle Scholar
  23. 23.
    Komrower GM (1978) Personal communicationGoogle Scholar
  24. 24.
    Levy HL (1977) Cystathionine synthase deficiency. In: Schaffer AJ, Avery ME (eds) Diseases of the newborn, 4th edn. Saunders, Philadelphia London Toronto, pp 549–550Google Scholar
  25. 25.
    Levy HL, Mudd SH, Schulman JD, Dreyfus PM, Abeles RHA (1970) A derangement in B12 metabolism associated with homocystinuria, cystathioninemia, hypomethioninemia and methyl malonic acidemia. Am J Med 48:390–397PubMedCrossRefGoogle Scholar
  26. 26.
    Levy HL, Shih VE, Madigan PM, Karolkewicz V, Carr JR, Lum A, Richards AA, Crawford JD, MacCready RA (1969) Hypermethioninemia with other hyperaminoacidemias. Am J Dis Child 117:96–103PubMedGoogle Scholar
  27. 27.
    Levy HL (1974) Cost-benefit analysis of newborn screening for metabolic disorders. N Engl J Med 291:1414–1416CrossRefGoogle Scholar
  28. 28.
    Lutz HP (1978) Personal communicationGoogle Scholar
  29. 29.
    McCance RA, Widdowson EM (1960) Composition of foods; Medical Research Council, Special Report Series 297. Her Majesty’s Stationery Office, London, p 253–255Google Scholar
  30. 30.
    McCully KS (1969) Vascular pathology of homocysteinemia: Implications for the pathogenesis of arteriosclerosis. Am J Pathol 56:111–128PubMedGoogle Scholar
  31. 31.
    McDonald L, Bray C, Field C, Love F, Davies B (1964) Homocystinuria, thrombosis and the blood platelets. Lancet 1:745–746PubMedCrossRefGoogle Scholar
  32. 32.
    McKenzie IL, Donaldson RM, Trier JS, Mathan VI (1972) Ileal mucosa in familial selective vitamin B12 malabsorption. N Engl J Med 286:1021–1025CrossRefGoogle Scholar
  33. 33.
    McKusick VA (1972) Heritable disorders of connective tissue, 4th edn. Mosby, St. Louis, p 224Google Scholar
  34. 34.
    McKusick VA (1975) Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X linked phenotypes, 4th edn. John Hopkins Press, Baltimore London, p 449Google Scholar
  35. 35.
    McKusick VA, Hall JG, Char F (1971) The clinical and genetic characteristics of homocystinuria. In: Carson NAJ, Raine DN (eds) Inherited disorders of sulphur metabolism. Churchill, Edinburgh London, pp 179–203Google Scholar
  36. 36.
    Mudd SH (1974) Homocystinuria and homocysteine metabolism. In: Nyhan WL (ed) Heritable disorders of aminoacid metabolism. Wiley, New York London Sydney Toronto, p 429–451Google Scholar
  37. 37.
    Perry TL (1971) Treatment of homocystinuria with a low-methionine diet and supplemental L-cystine. In: Carson NAJ, Raine DN (ed) Inherited disorders of sulphur metabolism. Churchill, Edinburgh London, pp 245–253Google Scholar
  38. 38.
    Pullon DHH (1971) A case of homocystinuria. In: Proceedings of paediatric society of New Zealand. NZ Med J 74:395Google Scholar
  39. 39.
    Raine DN (1974) Screening for disease: Inherited metabolic disease. Lancet 2:996–998PubMedCrossRefGoogle Scholar
  40. 40.
    Raine DN (1971) Methioninaemia in infancy. In: Carson NAJ, Raine DN (eds) Inherited disorders of sulphur metabolism. Churchill, Edinburgh London, pp 40–49Google Scholar
  41. 41.
    Sardharwalla I (1978) Personal communication.Google Scholar
  42. 42.
    Sardharwalla IB, Fowler B, Komrower GM (1976) Homocystinuria: Cyst(e)ine levels in the plasma. In: Bickel H, Stern J (eds) Inborn errors of calcium and bone metabolism. MTP Press, Lancaster, pp 325–326Google Scholar
  43. 43.
    Schimke RN, McKusick VA, Huang T, Pollack AD (1965) Homocystinuria. Studies of 20 families with 38 affected members. JAMA 193:711–719PubMedGoogle Scholar
  44. 44.
    Scientific Tables (1971) 7th edn. Ciba-Geigy, Basle, p 687Google Scholar
  45. 45.
    Shih VE, Salam MZ, Mudd SH, Uhlendorf W, Adams RD (1972) A new form of homocystinuria due to N5,10 methylenetetrahydrofolate reductase deficiency. Pedriatr Res 6:395Google Scholar
  46. 46.
    Shipman RT, Townley RRW, Danks DM (1969) Homocystinuria, Addisonian pernicious anaemia, and partial deletion of a G chromosome. Lancet 2:693–694PubMedCrossRefGoogle Scholar
  47. 47.
    Smith AJ, Strang LB (1958) An inborn error of metabolism with the urinary excretion of alpha hydroxybutyric acid and phenyl pyruvic acid. Arch Dis Child 33:109–113PubMedCrossRefGoogle Scholar
  48. 48.
    Snyderman S (1978) Personal communication (1978)Google Scholar
  49. 49.
    Sturman JA, Gaull G, Raiha NCR (1970) Absence of cystathionase in human fetal liver: Is cystine essential? Science 169:74–76PubMedCrossRefGoogle Scholar
  50. 50.
    Tada K (1978) Personal communicationGoogle Scholar
  51. 51.
    Uhlemann ER, TenPas JH, Lucky AW, Schulman JD, Mudd SH, Schulman NR (1976) Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency. N Engl J Med 295:1283–1286PubMedCrossRefGoogle Scholar
  52. 52.
    Wilcken B (1978) Personal communicationGoogle Scholar
  53. 53.
    Wilcken B, Turner B (1973) Homocystinuria: Reduced folate levels during pyridoxine treatment. Arch Dis Child 48:58–62PubMedCrossRefGoogle Scholar
  54. 54.
    Wilcken B, Turner B, Brown DA (1972) Detection of abnormal sulpur-containing aminoacid excretion in a mass urine-screening programme. Med J Aust 1:1193–1195PubMedGoogle Scholar
  55. 55.
    Wilcken B, Turner G (1978) Homocystinuria in New South Wales. Arch Dis Child 53:242–245PubMedCrossRefGoogle Scholar
  56. 56.
    Wyeth J and Brother Ltd, Manager for NZ (1978) Personal communicationGoogle Scholar
  57. 57.
    Wong PK, Justice P, Hruby M, Weiss EB, Diamond E (1977) Folic acid nonresponsive homocystinuria due to methylene tetrahydrofolate reductase deficiency. Pediatrics 59:749–756PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1980

Authors and Affiliations

  • D. H. H. Pullon

There are no affiliations available

Personalised recommendations