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GENATLAS PHENOTYPE
last update : 14-03-2018
Symbol PDP1D
Location 8q22.1
Name pyruvate dehydrogenase phosphatase 1 deficiency
Corresponding gene PDP1
Other symbol(s) PPM2CD
Main clinical features
  • lactic acidemia in the neonatal period with serum lactate levels ranging from 2.5 to 17 mM; failure of dichloroacetate to activate the PDH complex in skin fibroblasts was evident, with complete absence of PDP1 protein in mitochondria
  • lactic acidemia with pyruvate dehydrogenase phosphatase deficiency, defect, which was apparent in muscle and liver but not in brain, with markedly reduced activity of pyruvate dehydrogenase phosphatase
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Remark(s)