Mitochondrial Phosphate Carrier Deficiency (MPCD)

Mitochondrial Phosphate Carrier Deficiency, also known as cardiomyopathy-hypotonia-lactic acidosis syndrome, is related to cardiomyopathy, familial hypertrophic, 1 and hypertrophic cardiomyopathy. An important gene associated with Mitochondrial Phosphate Carrier Deficiency is SLC25A3 (Solute Carrier Family 25 Member 3). Affiliated tissues include heart and endothelial, and related phenotypes are hypotonia and hypertrophic cardiomyopathy