GABA Transaminase Deficiency With Survival Into Adulthood.

Abstract

γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. We report 2 affected siblings in adolescence and adulthood, both with profound developmental impairment, intractable epilepsy, movement disorder, and behavioral fluctuations. This considerably expands the phenotype and longevity of this inherited neurotransmitter disease.

• Authors: Anaita U Hegde, Purva K Karnavat, R Vyas, Melissa L DiBacco, P Ellen Grant, Phillip L Pearl
• Journal: Journal of child neurology (J Child Neurol) Vol. 34 Issue 4 Pg. 216-220 (03 2019) ISSN: 1708-8283 [Electronic] United States
• PMID: 30644311 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• 4-Aminobutyrate Transaminase

Topics

• 4-Aminobutyrate Transaminase (deficiency, genetics)
• Adolescent
• Amino Acid Metabolism, Inborn Errors (diagnosis, genetics, therapy)
• Humans
• Male
• Phenotype
• Siblings
• Young Adult