Section 11. Inherited Disorders of Metabolism >
Part 2. Disorders of Amino Acid (AA) and Organic Acid (OA) Metabolism >
Chapter 138. Disorders of Sulfur-Containing Amino Acid MetabolismBernd Christian Schwahn
Topics Discussed: amino acid metabolism, inborn errors; genetics and dysmorphology.
Sections: Homocystinuria, Classical Homocystinuria (CBS Deficiency), Methylenetetra-Hydrofolate Reductase Deficiency, Methionine Synthase (MTR) and Methionine Synthase Reductase (MTRR) Deficiency, Cystathionase Deficiency (Cystathioninuria), Sulfite Oxidase Deficiency, Molybdenum Cofactor Deficiency, SAH Hydrolase Deficiency, Methionine Adenosyltransferase Deficiency, Gamma-Glutamyl Cycle, Glutathionesynthase Deficiency (Pyroglutamic Aciduria), Gamma-Glutamylcysteine Synthetase Deficiency, Gamma-Glutamyl Transpeptidase Deficiency (Glutathionuria), 5-Oxoprolinase Deficiency, References.
Excerpt:"Sulfur-containing amino acids have various roles: They mediate
the transfer of methyl groups for virtually all transmethylation
reactions; they provide reactive thiol groups that are needed for
detoxification of endogenous and exogenous substances; they help
maintain the intracellular redox potential; and they are a source
of sulphate. Thirteen disorders of sulphur amino acid metabolism
have been consistently described, 11 of them potentially leading
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