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. MHBD is characterized by normal early development followed by progressive loss of mental and motor skills.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00925  2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency
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
hsa00280  Valine, leucine and isoleucine degradation
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00857  HSD17B10 deficiency in 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
  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
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