Work

GABA Transaminase Deficiency With Survival Into Adulthood

Year: 2019

Type: article

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.

Source: Journal of Child Neurology

DOI: 10.1177/0883073818823359

Authors: Anaita U. Hegde, Purva K. Karnavat, R. Vyas, Melissa L. DiBacco, P. Ellen Grant, Phillip L. Pearl

Institutions: Jaslok Hospital, Boston Children's Hospital, Harvard University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development