Pyruvate carboxylase deficiency
| Pyruvate carboxylase deficiency | |
|---|---|
| Other names | Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Ataxia with lactic acidosis II |
| Specialty | Endocrinology |
| Symptoms | lactic acidosis, liver failure, hepatomegaly, demyelination and poor coordination |
| Complications | lactic acidosis |
| Duration | congenital |
| Types | A, B, C |
| Causes | mutation to gene for pyruvate carboxylase |
| Treatment | anaplerotic therapy, low-fat diet |
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. Type A of the disease appears to be much more common in some Algonkian Indian tribes in eastern Canada, while the type B disease is more present in European populations.