pyruvate decarboxylase deficiency

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

Types

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.