" /> Pyruvate dehydrogenase phosphatase deficiency - CISMeF





Preferred Label : Pyruvate dehydrogenase phosphatase deficiency;

Symbol : PDHPD;

CISMeF acronym : PDHPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the magnesium-dependent protein phosphatase 2C gene (PPM2C, 605993.0001).;

Laboratory abnormalities : Decreased activity of the PDH phosphatase; Decreased activity of the pyruvate dehydrogenase (PDH) complex;

Prefixed ID : #608782;

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27/07/2025


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