KEGG   VARIANT: 3030v1
Entry
3030v1                      Variant                                
Name
HADHA deficiency
Type
Loss of function
Gene
HADHA  trifunctional enzyme subunit alpha, mitochondrial precursor [KO:K07515]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600890
Network
nt06020  beta-Oxidation in mitochondria
Disease
H00489  LCHAD deficiency
Reference
  Authors
Baskin B, Geraghty M, Ray PN
  Title
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
  Journal
Am J Med Genet A 152A:1808-11 (2010)
DOI:10.1002/ajmg.a.33462
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