Dr. Pearl of Boston Children's Hospital and Harvard Medical School received research funding from PTC Therapeutics.)
Dr. DiBacco of Boston Children’s Hospital has no relevant financial relationships to disclose.)
Dr. Friedman of the University of California San Diego has no relevant financial relationships to disclose.)
This article includes discussion of GABA-transaminase deficiency, 4-aminobutyric acid aminotransferase deficiency, GABA-T deficiency, gamma-aminobutyric acid aminotransferase deficiency, gamma-aminobutyric acid transaminase deficiency, gamma-aminobutyrate aminotransferase deficiency, gamma-aminobutyrate transaminase deficiency, and 4-Aminobutyrate:2-oxoglutarate aminotransferase deficiency. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.
GABA-transaminase deficiency is a rare GABA metabolism disorder that combines neonatal encephalopathy, hypotonia, and epilepsy. In this article, the authors review this enigmatic pediatric neurotransmitter disorder. Patients have manifested seizures, psychomotor retardation, hypotonia, hyperreflexia, and lethargy. Urine amino acids may show elevated GABA, homocarnosine, and beta-alanine. Differential diagnosis includes succinic semialdehyde dehydrogenase deficiency, cerebral gigantism, globoid cell leukodystrophy, and Pelizaeus-Merzbacher disease. GABA-transaminase deficiency is diagnosed through accurate determination of elevated CSF GABA and beta-alanine, and confirmation is by enzymatic activity or molecular analysis. MR spectroscopy with special editing for small molecules has been used as an alternative to CSF to make this diagnosis.
• GABA-transaminase deficiency is inherited as an autosomal recessive disorder.
• This disorder is characterized by high levels of GABA in serum and CSF.
• Patients manifest with abnormal development and seizures.
• There are 17 confirmed, published cases of GABA-transaminase deficiency.
Historical note and terminology
GABA-transaminase deficiency was initially reported in 2 of 4 siblings in a single Flemish family (Jaeken et al 1984). Only the female, who died at 2 years of age, was confirmed enzymatically. An older brother, who died previously at 1 year of age, had similar clinical symptomatology. A report and literature review published 10 cases, including the original family noted above (Koenig et al 2017).
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