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Inborn error of pyruvate metabolism

MedGen UID:
19612
Concept ID:
C0034350
Disease or Syndrome
Synonyms: Pyruvate Metabolism, Inborn Errors
SNOMED CT: Inborn error of pyruvate metabolism (53210006)
 

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. [from MeSH]

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