SNP Shot: Genomic Insights

GABA-transaminase deficiency is a type of encephalopathy, a brain disorder, that manifests in early infancy. Infants affected by this condition experience recurring epileptic seizures, involuntary choreoathetoid movements of the limbs, heightened reflexes (hyperreflexia), decreased muscle tone (hypotonia), and excessive drowsiness (hypersomnolence). These infants may exhibit unusually rapid lengthening of their bodies (accelerated linear growth), despite difficulties with feeding and a tendency to not gain weight at the expected rate (failure to thrive).

GABA-transaminase deficiency severely hinders development in children. The majority fail to reach typical infant developmental markers, such as tracking objects with their eyes or sitting up without support. Individuals with this condition typically do not live beyond their first two years, although some survive for a longer period into childhood.

Inheritance:

The inheritance pattern of this condition is autosomal recessive. This means that both copies of the responsible gene within each cell must contain mutations for the disorder to develop. Parents of an individual with an autosomal recessive condition each carry a single copy of the mutated gene, but generally do not display any signs or symptoms of the condition themselves.