GABA aminotransaminase deficiency

GABA aminotransaminase deficiency is an extremely rare disorder of GABA metabolism. It is characterized by a severe neonatal-infantile epileptic encephalopathy and symptoms such as seizures, low muscle tone (hypotonia), increased reflexes (hyperreflexia), and developmental delays. Additionally, growth acceleration has been observed in affected individuals. This condition impacts the normal function of the gamma-aminobutyric acid (GABA) metabolic pathway, which is important for brain function. It presents in early life, and the severity of symptoms makes early awareness important for managing the condition.

People with this condition often experience seizures, low muscle tone (hypotonia), increased reflexes (hyperreflexia), and delays in development. Growth acceleration is also noted as a possible symptom.

GABA aminotransaminase deficiency is caused by issues with the ABAT gene, which affect the metabolism of gamma-aminobutyric acid. These genetic changes disrupt the normal balance of chemicals in the brain, leading to the symptoms observed in affected individuals.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.