KEGG   DISEASE: GABA-transaminase deficiency
Entry
H01257                      Disease                                
Name
GABA-transaminase deficiency;
4-Aminobutyrate aminotransferase deficiency
Description
GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and electroencephalographic abnormalities.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C59  Inborn errors of neurotransmitter metabolism
     H01257  GABA-transaminase deficiency
Pathway
hsa00250  Alanine, aspartate and glutamate metabolism
hsa04727  GABAergic synapse
Gene
ABAT [HSA:18] [KO:K13524]
Other DBs
ICD-11: 5C59.1
ICD-10: E72.8
MeSH: C535407
OMIM: 613163
Reference
PMID:10407778
  Authors
Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, Gibson KM
  Title
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
  Journal
J Inherit Metab Dis 22:414-27 (1999)
DOI:10.1023/A:1005500122231
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