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GABA aminotransaminase deficiency (GABA-AT deficiency)

Genetics: - associated with defects in ABAT Clinical manifestations: - psychomotor retardation - hypotonia - hyperreflexia - lethargy - refractory seizures Laboratory: - CSF analysis - increased GABA - serum growth hormone is increased Special laboratory: - electroencephalogram: EEG abnormalities

Related

4-aminobutyrate aminotransferase, mitochondrial; gamma-amino-N-butyrate transaminase; GABA transaminase; GABA-T; GABA aminotransferase; GABA-AT; L-AIBAT; (S)-3-amino-2-methylpropionate transaminase (ABAT, GABAT)

General

enzyme deficiency inborn error of metabolism

Database Correlations

OMIM 137150 MORBIDMAP 137150

References

  1. OMIM :accession 137150
  2. Jaeken J et al Gamma-Aminobutyric Acid-Transaminase Deficiency: A Newly Recognized Inborn Error of Neurotransmitter Metabolism Neuropediatrics 1984; 15(3): 165-169 https://www.thieme-connect.com/ejournals/abstract/neuropediatrics/doi/10.1055/s-2008-1052362