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BH4 Patient
List of associated diseases and any hint to further information based on the descripton or synonyms to the accession number HMDB00243
Pyruvic acid
An intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed.) Biological Source: Intermediate in primary metabolism including fermentation processes. Present in muscle in redox equilibrium with Lactic acid. A common constituent, as a chiral cyclic acetal linked to saccharide residues, of bacterial polysaccharides. Isolated from cane sugar fermentation broth and peppermint. Constituent of Bauhinia purpurea, Cicer arietinum (chickpea), Delonix regia, Pisum sativum (pea) and Trigonella caerulea (sweet trefoil) Use/Importance: Reagent for regeneration of carbonyl compdounds from semicarbazones, phenylhydrazones and oximes. Flavoring ingredient (Dictionary of Organic Compounds)
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MAPLE SYRUP URINE DISEASE
PROPIONIC ACIDEMIA
ALPHA-MANNOSIDOSIS
PYRUVATE DEHYDROGENASE DEFICIENCY (E3)
PYRUVATE CARBOXYLASE DEFICIENCY
PYRUVATE DEHYDROGENASE DEFICIENCY (E1)
PYRUVATE KINASE DEFICIENCY
MUCOLIPIDOSIS II
TYROSINEMIA III
HYPERPHENYLALANINEMIA DUE TO PTERIN-4a-CARBINOLAMINE DEHYDRATASE
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