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GTR Home > Conditions/Phenotypes > Gamma-aminobutyric acid transaminase deficiency

Gamma-aminobutyric acid transaminase deficiency

Synonyms
4 alpha aminobutyrate transaminase deficiency; GABA aminotransaminase deficiency; GABA transaminase deficiency; Gamma aminobutyrate transaminase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017). [from OMIM]

Available tests

38 tests are in the database for this condition.

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Clinical tests (38 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GABA-AT, GABAT, NPD009, ABAT
    Summary: 4-aminobutyrate aminotransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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