KEGG   VARIANT: 2639v1
Entry
2639v1                      Variant                                
Name
GCDH deficiency
Gene
GCDH  glutaryl-CoA dehydrogenase [KO:K00252]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608801
Network
nt06036  Lysine degradation
Disease
H00178  Glutaric acidemia
Reference
  Authors
Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, Fernandez-Alvarez E, Prats JM, Sans A, Arteaga R, Marti M, Campos J, Martinez-Pardo M, Martinez-Bermejo A, Ruiz-Falco ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A
  Title
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
  Journal
Pediatr Res 48:315-22 (2000)
DOI:10.1203/00006450-200009000-00009
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