H01003 | |
H number | H01003 |
Name | Dimethylglycine dehydrogenase deficiency |
Description | Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism of choline. |
Category | Inherited metabolic disorder |
Network | - |
Gene | (DMGDHD) DMGDH [HSA:29958] [KO:K00315] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.7 ICD-10: E72.5 MeSH: C565278 OMIM: 605850 268900 |
Reference | PMID:11231903 AUTHORS Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J TITLE Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. JOURNAL Am J Hum Genet 68:839-47 (2001) DOI:10.1086/319520 |