KEGG   NETWORK: N00769
Entry
N00769                      Network                                

Name
ACADVL deficiency in beta-oxidation
Definition
Acyl-CoA(n) -- ACADVL*
  Expanded
C00040 -- 37v1
Class
nt06020 beta-Oxidation in mitochondria
Type
Variant
Disease
H00525  Disorders of mitochondrial fatty-acid oxidation
H00392  VLCAD deficiency
Gene
37  ACADVL; acyl-CoA dehydrogenase very long chain
Variant
37v1 (ACADVL*)  ACADVL deficiency
Metabolite
C00040  Acyl-CoA
Reference
PMID:9973285
  Authors
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N
  Title
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
  Journal
Am J Hum Genet 64:479-94 (1999)
DOI:10.1086/302261
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