H00925 | |
H number | H00925 |
Name | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency; HSD10 mitochondrial disease |
Description | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. This disorder is characterized by normal early development followed by progressive loss of mental and motor skills. |
Category | Inherited metabolic disorder |
Network | nt06024(H00925) Valine, leucine and isoleucine degradation |
Gene | HSD17B10 [HSA:3028] [KO:K08683] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Syndromic X-linked mental retardation (H00658) is also caused by mutation in the HSD17B10 gene. See also H00658. |
Other DBs | ICD-11: 5C52.01 ICD-10: E71.3 MeSH: C536080 OMIM: 300438 |
Reference | PMID:16148061 AUTHORS Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A TITLE 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. JOURNAL Pediatr Res 58:488-91 (2005) DOI:10.1203/01.pdr.0000176916.94328.cd |