KEGG   VARIANT: 26275v1
Entry
26275v1                      Variant                               
Name
HIBCH deficiency
Gene
HIBCH  3-hydroxyisobutyryl-CoA hydrolase [KO:K05605]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610690
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H01349  Methacrylic aciduria
Reference
PMID:7122152
  Authors
Brown GK, Hunt SM, Scholem R, Fowler K, Grimes A, Mercer JF, Truscott RM, Cotton RG, Rogers JG, Danks DM
  Title
beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.
  Journal
Pediatrics 70:532-8 (1982)
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