GABA Transaminase Deficiency With Survival Into Adulthood.
J Child Neurol
; 34(4): 216-220, 2019 03.
Article
in En
| MEDLINE
| ID: mdl-30644311
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Amino Acid Metabolism, Inborn Errors
/
4-Aminobutyrate Transaminase
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Adult
/
Humans
/
Male
Language:
En
Year:
2019
Type:
Article