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.
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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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