Pyruvate Dehydrogenase Complex Deficiency Disease

MeSH code information
  • Name
  • Concept
    Scope note:An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.
  • Tree numbers
    • C10.
    • C10.597.606.643.455.875
    • C16.320.322.500.875
    • C16.320.400.525.875
    • C16.320.565.189.750
    • C16.320.565.202.810.766
    • C18.452.132.100.750
    • C18.452.648.189.750
    • C18.452.648.202.810.766
    • C18.452.660.710
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Pyruvate Dehydrogenase Complex Deficiency Disease - MeSH Inf
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