Mitochondrial Pyruvate Carrier Deficiency (MPYCD)

Mitochondrial Pyruvate Carrier Deficiency, also known as mpycd, is related to microcephaly and mitochondrial disease. An important gene associated with Mitochondrial Pyruvate Carrier Deficiency is MPC1 (Mitochondrial Pyruvate Carrier 1), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotypes are seizure and epicanthus