| H01290 | |
| H number | H01290 |
| Name | Acute recurrent myoglobinuria |
| Description | Acute recurrent myoglobinuria is caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. It has been reported that mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | LPIN1 [HSA:23175] [KO:K15728] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: MF95 ICD-10: R82.1 MeSH: C564832 OMIM: 268200 |
| Reference | PMID:18817903 AUTHORS Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O TITLE Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. JOURNAL Am J Hum Genet 83:489-94 (2008) DOI:10.1016/j.ajhg.2008.09.002 |