KEGG   DISEASE: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency
Entry
H00925                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00925  2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06024  Valine, leucine and isoleucine degradation
   H00925  2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency
Pathway
hsa00280  Valine, leucine and isoleucine degradation
Network
nt06024 Valine, leucine and isoleucine degradation
Gene
HSD17B10 [HSA:3028] [KO:K08683]
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
LinkDB

» Japanese version

DBGET integrated database retrieval system