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GENATLAS PHENOTYPE

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))