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last update : 29-04-2013
Symbol PDHB
Location 3p21.1-p14.3
Name pyruvate dehydrogenase deficiency, eta polypeptide
Other name(s) pyruvate dehydrogenase deficiency, E1beta subunit
Corresponding gene PDHB
related resource MITOP database
Main clinical features
  • severe primary lactic acidosis, neurological dysfunction, and early death
  • neonatal lactic acidosis, followed by failure to thrive and seizures with blood lactate very high and respiratory insufficiency
  • Genetic determination
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name pyruvate dehydrogenase, E1 beta subunit (PDHB)