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2-Hydroxyadipic acid
Deficiency of 2-ketoadipic dehydrogenase causes 2-ketoadipic acidemia (OMIM 245130), a condition characterized by accumulation and excretion of 2-hydroxyadipic acid (with 2-ketoadipic and 2-aminoadipic) probably without adverse phenotypic effects.(OMMBID - The Metabolic and Molecular Bases of Inherited Disease, CH.95)A method involving derivatization and combined gas chromatography--mass spectrometry has been developed to separate the enantiomers of 3-hydroxyadipic acid. By combining this method with asymmetric synthesis of the same acid, it has been shown that 3-hydroxyadipic acid excreted in urine consists of at least 95% of the L-enantiomer. This finding supports the hypothesis that dicarboxylic acids are degraded by ordinary beta-oxidation, and indicates that adipic acid may be converted into succinic acid. (PMID: 3980660)
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  1. ALPHA-MANNOSIDOSIS
  2. MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD)
  3. MUCOLIPIDOSIS II
  4. HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE
Autoren: Prof. Dr. Friedrich Trefz, Dr. Frauendienst und Hermann Götz. E-Mail: trefz_f@kreiskliniken-reutlingen.de
Last update 29.12.2009 07:05:52