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Gamma-aminobutyric acid transaminase deficiency

ORPHA2066
Synonym(s) GABA transaminase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E72.8
OMIM
UMLS
  • C0342708
MeSH
  • C535407
MedDRA -

Summary

Gamma aminobutyric acid transaminase (GABA-T) deficiency is an inborn error of GABA degradation. In the one reported family (with an affected brother and sister), it was characterised by severe psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures and electroencephalographic abnormalities, and growth acceleration. The disorder had an autosomal recessive inheritance and was caused by a homozygous mutation in the GABA-T gene in the reported family.

Expert reviewer(s)

  • Pr Jaak JAEKEN

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