Advertisement

Abstract

The sulfur amino acids are methionine, homocysteine, cystathionine, cyst(e)ine, and taurine. Defects in several of the enzymatic steps of their metabolism are known; some, but not all, result in human disease. The remethylation of homocysteine to methionine is closely dependent on folate and cobalamin cofactors, and relevant defects of their metabolism are therefore included in this chapter. Cystinuria and cystinosis, defects of renal tubular and lysosomal transport of cystine, respectively, are described in Chap. 13.

Keywords

Chorionic Villus Sulfur Amino Acid Megaloblastic Anemia Methylmalonic Acid Sulfite Oxidase 
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.
    Mudd SH, Levy HL, Kraus JP. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001:2007–2056Google Scholar
  2. 2.
    Johnson JL, Duran M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001:3163–3177Google Scholar
  3. 3.
    Rosenblatt DS, Fenton W. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001:3897–3933Google Scholar
  4. 4.
    Reiss J, Gross-Hardt S, Christensen E, Schmidt P, Mendel RR, Schwarz G. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am J Hum Genet 2001;68 208–213PubMedCrossRefGoogle Scholar
  5. 5.
    Malatack JJ, Moran MM, Moughan B. Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect. Pediatrics 1999Pediatrics;104:1133–1137CrossRefGoogle Scholar
  6. 6.
    Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001:2165–2193Google Scholar
  7. 7.
    Refsum H, Ueland PM, Nygaard O, Vollset SE. Homocysteine and cardiovascular disease. Annu Rev Med 1998;49:31–62PubMedCrossRefGoogle Scholar
  8. 8.
    Touati G, Rusthoven E, Depondt E, Dorche C, Duran M, Heron B, Rabier D, Russo M, Saudubray JM. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement. J Inher Metab Dis 2000;23:45–53PubMedCrossRefGoogle Scholar
  9. 9.
    Gaustadnes M, Rüdiger N, Rasmussen K, Ingerslev J. Familial thrombophilia associated with homozygosity for the cystathionine β-synthase 833T → C mutation. Arterioscler Thromb Vase Biol 2000;20:1392–1395.CrossRefGoogle Scholar
  10. 10.
    Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, Chou JY. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet 2000;66:347–355PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2003

Authors and Affiliations

  • Flemming Skovby

There are no affiliations available

Personalised recommendations