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.
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Skovby, F. (2003). Disorders of Sulfur Amino Acids. In: Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (eds) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55878-8_16
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DOI: https://doi.org/10.1007/978-3-642-55878-8_16
Publisher Name: Springer, Berlin, Heidelberg
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