KEGG   VARIANT: 1892v1
Entry
1892v1                      Variant                                
Name
ECHS1 deficiency
Gene
ECHS1  enoyl-CoA hydratase, short chain 1 [KO:K07511]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602292
Network
nt06020  beta-Oxidation in mitochondria
Disease
H00525  Disorders of mitochondrial fatty-acid oxidation
Reference
PMID:25125611
  Authors
Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J
  Title
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
  Journal
Brain 137:2903-8 (2014)
DOI:10.1093/brain/awu216
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