Pyruvate dehydrogenase phosphatase deficiency
Alternate names[edit | edit source]
Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
Definition[edit | edit source]
Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.
Epidemiology[edit | edit source]
Prevalence is unknown but this form of PDHD appears to be very rare, with only three patients reported.
Cause[edit | edit source]
The disorder is caused by mutations in the PDP1 gene (8q22.1) encoding pyruvate dehyrogenase phosphatase isoform 1, an enzyme which regulates the activity of the pyruvate dehydrogenase complex.
Inheritance[edit | edit source]
The pattern of inheritance is autosomal recessive.
NIH genetic and rare disease info[edit source]
Pyruvate dehydrogenase phosphatase deficiency is a rare disease.
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