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GENATLAS PHENOTYPE
last update : 05-07-2022
Symbol PDHA1D
Location Xp22.12
Name pyruvate dehydrogenase (lipoamide) alpha 1 deficiency
Corresponding gene PDHA1
Main clinical features
  • the most common causes of primary lactic acidosis in children with clinical spectrum of PDH deficiency ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the CNS without systemic acidosis
    • Genetic determination sex linked
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name pyruvate dehydrogenase, E1 alpha polypeptide 1 (PDHA1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     deletion breakpoint contained a short direct repeat (GTAG)
    insertion-deletion     insertion/deletion mutations occur preferentially in exons 10 and 11, while missense/nonsense mutations are found in all exons
    Remark(s) almost equal numbers of affected males and females have been identified due to developmental lethality in some males with severe mutations and the pattern of X-inactivation in females; a difference in the distribution of the type of mutations is evident between both sexes