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poruchy metabolizmu pyruvátu, vrodené

  1. Subject h.poruchy metabolizmu pyruvátu, vrodené
    Subject h.Pyruvate Metabolism, Inborn Errors
    Scope note in EnglishHereditary 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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