- Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > pyruvate decarboxylase deficiency

pyruvate decarboxylase deficiency


Wednesday 10 March 2010

Definition: Pyruvate carboxylase deficiency is caused by mutation in the pyruvate carboxylase gene (PC; MIM.608786).


Pyruvate carboxylase deficiency may be categorized into 3 phenotypic subgroups:

- Patients from North America (’group A’) have lactic acidemia and psychomotor retardation

- Patients from France and the United Kingdom (’group B’) have a more complex biochemical phenotype with:

  • increased serum lactate
  • ammonia
  • citrulline
  • lysine
  • intracellular redox disturbance in which the cytosolic compartment is more reduced and the mitochondrial compartment is more oxidized.

- Group C is relatively benign.

Patients in group B have decreased survival compared to group A, and usually do not survive beyond 3 months of age (Robinson et al., 1987).

See also

- pyruvate decarboxylase deficiency (MIM.312170) is caused by mutation in the gene encoding the E1-alpha polypeptide (PDHA1; MIM.300502) of the pyruvate dehydrogenase (PDH) complex.