" /> pyruvate metabolism, inborn errors - CISMeF





Preferred Label : pyruvate metabolism, inborn errors;

MeSH definition : Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.;

MeSH annotation : an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: PYRUVATE METAB INBORN ERR;

Wikipedia link : https://en.wikipedia.org/wiki/Pyruvate metabolism, inborn errors;

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Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.

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27/07/2025


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