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last update : 22-03-2011
Symbol PCDLA
Location 11q13.3
Name pyruvate carboxylase deficiency with lactate acidosis
Corresponding gene PC
Main clinical features
  • presenting as a severe neonatal form with hyperammonemia and abnormal redox state ( Leigh syndrome) , a milder form with mental retardation, and developmental delay and a benign form
  • the most severe form (form B) is characterized by neonatal lethal lactic acidosis, whereas patients with form A suffer chronic lactic acidosis with psychomotor retardation
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name pyruvate carboxylase (PC)
    Remark(s) . most PC mutations are suggested to interfere with biotin metabolism, but none of the PC-deficient patients was biotin-responsive ((PMID: 19306334))
    Genotype/Phenotype correlations
  • form B is consistently associated with at least one truncating mutation, mostly lying in CT (C-terminal part) or BCCP domains, whereas form A always results from association of two missense mutations located in BC or CT (N-terminal part) domains (PMID: 19306334))