KEGG   VARIANT: 3033v1
Entry
3033v1                      Variant                                
Name
HADH deficiency
Type
Loss of function
Gene
HADH  hydroxyacyl-coenzyme A dehydrogenase, mitochondrial isoform 2 precursor [KO:K00022]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601609
Network
nt06020  beta-Oxidation in mitochondria
Disease
H01364  3-Hydroxyacyl-CoA dehydrogenase deficiency
Reference
PMID:10931422
  Authors
Treacy EP, Lambert DM, Barnes R, Boriack RL, Vockley J, O'brien LK, Jones PM, Bennett MJ
  Title
Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.
  Journal
J Pediatr 137:257-9 (2000)
DOI:10.1067/mpd.2000.107467
LinkDB

DBGET integrated database retrieval system