| H01348 | |
| H number | H01348 |
| Name | Mitochondrial phosphate carrier deficiency |
| Description | Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). The patients present with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | - |
| Gene | SLC25A3 [HSA:5250] [KO:K15102] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.30 ICD-10: G71.3 MeSH: C563665 OMIM: 610773 |
| Reference | PMID:17273968 AUTHORS Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Bohles H, Fotschl U, Koch J, Jaksch M, Lochmuller H, Horvath R, Freisinger P, Sperl W TITLE Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. JOURNAL Am J Hum Genet 80:478-84 (2007) DOI:10.1086/511788 PMID:21763135 AUTHORS Mayr JA, Zimmermann FA, Horvath R, Schneider HC, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W TITLE Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. JOURNAL Neuromuscul Disord 21:803-8 (2011) DOI:10.1016/j.nmd.2011.06.005 |