KEGG   VARIANT: 8659v1
Entry
8659v1                      Variant                                
Name
ALDH4A1 deficiency
Type
Loss of function
Gene
ALDH4A1  aldehyde dehydrogenase 4 family member A1 [KO:K00294]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606811
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H00190  Hyperprolinemia
Reference
PMID:9700195
  Authors
Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA
  Title
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.
  Journal
Hum Mol Genet 7:1411-5 (1998)
DOI:10.1093/hmg/7.9.1411
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