 |  | Rudolph's Pediatrics 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
to disease...."
The content above is only an
excerpt. For full access, log into an existing user account below, purchase an annual subscription, or
purchase a short-term subscription to the complete website.
offers pediatrics students,
educators, and practioners access to leading McGraw-Hill texts, interactive imaging
content, exclusive multimedia, and flexible curricular tools.
Timed access to all of AccessPediatrics
24 hours for $29.95
48 hours for $49.95
Or