KEGG   VARIANT: 34v1
Entry
34v1                      Variant                                  
Name
ACADM deficiency
Type
Loss of function
Gene
ACADM  acyl-CoA dehydrogenase medium chain [KO:K00249]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607008
Network
nt06020  beta-Oxidation in mitochondria
Disease
H00488  MCAD deficiency
Reference
PMID:9158144
  Authors
Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N
  Title
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
  Journal
Hum Mol Genet 6:695-707 (1997)
DOI:10.1093/hmg/6.5.695
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