KEGG   DISEASE: VLCAD deficiency
Entry
H00392                      Disease                                

Name
VLCAD deficiency;
Very long-chain acyl-CoA dehydrogenase deficiency
  Supergrp
Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
Secondary hyperammonemia [DS:H01400]
Mitochondrial disease [DS:H01427]
Description
Very long chain acyl-coA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious type that causes a potentially lethal cardiomyopathy, a later onset type that presents with hypoketotic hypoglycaemia, and an adult onset form that mainly causes muscular symptoms.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00392  VLCAD deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00392  VLCAD deficiency
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00769  ACADVL deficiency in beta-oxidation
Gene
ACADVL [HSA:37] [KO:K09479]
Other DBs
ICD-11: 5C52.01
ICD-10: E71.3
MeSH: C536353
OMIM: 201475
Reference
  Authors
Brown A, Crowe L, Andresen BS, Anderson V, Boneh A
  Title
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
  Journal
Mol Genet Metab 113:278-82 (2014)
DOI:10.1016/j.ymgme.2014.10.005
Reference
  Authors
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ
  Title
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
  Journal
Mol Genet Metab 116:139-45 (2015)
DOI:10.1016/j.ymgme.2015.08.011
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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