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GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol PDHX
Location 11p13
Name pyruvate dehydrogenase e3-binding protein deficiency
Other name(s)
  • lactic acidemia due to defect in lipoyl-containing component x of the pyruvate dehydrogenase complex
    • Corresponding gene PDHX
    Main clinical features severe developmental delay and mental retardation
    Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease
    Gene product
    Name lipoyl-containing protein (protein X) subunit of PDH complex (PDHX)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   absent protein small or large deletion of PDHX