[5] It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family.

Click on genes, proteins and metabolites below to link to respective articles.

[§ 1] Mitochondrial pyruvate carrier deficiency (MPYCD) is an autosomal recessive disease due to mutations in the MPC1 gene on chromosome 6q27.

Common signs and symptoms include poor growth, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), hepatomegaly, lactic acidosis, hypoglycemia, neurological problems, and hypotonia.

[6] A disease with comparable symptoms is also seen in autosomal recessive mutations of the MPC2 gene.