Pyruvate carboxylase deficiency
Patients with pyruvate carboxylase deficiency develop elevated serum lactate and ammonia as newborns or infants. This metabolic acidosis may lead to altered mental status and seizures. Patients go on to show delays in development and growth. Neurologic abnormalities, such as hypotonia, ataxia, and paralysis, also develop. Hypoglycemia is also characteristic of the disease.
Supplementation with biotin (a co-enzyme to pyruvate carboxylase) and thiamine (a stimulator of alternative metabolic pathways) is the primary treatment of pyruvate carboxylase deficiency. Despite treatment-improved metabolic acidosis, neurologic dysfunction remains progressive.
For more information, see OMIM.
E74.4 – Disorders of pyruvate metabolism and gluconeogenesis
87694001 – Pyruvate carboxylase deficiency