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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)