KEGG   VARIANT: 27034v1
Entry
27034v1                      Variant                               
Name
ACAD8 deficiency
Gene
ACAD8  acyl-CoA dehydrogenase family member 8 [KO:K11538]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604773
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H01279  Isobutyryl-CoA dehydrogenase deficiency
Reference
PMID:12359132
  Authors
Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J
  Title
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
  Journal
Mol Genet Metab 77:68-79 (2002)
DOI:10.1016/S1096-7192(02)00152-X
LinkDB

DBGET integrated database retrieval system