📂 Diseases
GABA aminotransferase deficiency — Definition
GABA aminotransferaz eksikliği / GABA aminotransferase deficiency
GABA aminotransferase deficiency is a rare genetic metabolic disease caused by a deficiency of the enzyme involved in the breakdown of the neurotransmitter GABA (gamma-aminobutyric acid). This leads to an accumulation of GABA in the brain, resulting in neurological symptoms. The condition is clinically characterized by hypotonia (decreased muscle tone), developmental delay, epileptic seizures, and encephalopathy, beginning in the newborn period or early childhood. The disease follows an autosomal recessive inheritance pattern, and diagnosis is often made by detecting elevated levels of GABA in plasma, cerebrospinal fluid, or urine, and is confirmed by genetic testing.
Frequently Asked Questions
❓ What is GABA aminotransferaz eksikliği?
GABA aminotransferaz eksikliği; gABA aminotransferase deficiency is a rare genetic metabolic disease caused by a deficiency of the enzyme involved in the breakdown of the neurotransmitter GABA (gamma-aminobutyric acid). This leads to an accumulation of GABA in the brain, resulting in neurological symptoms. The condition is clinically characterized by hypotonia (decreased muscle tone), developmental delay, epileptic seizures, and encephalopathy, beginning in the newborn period or early childhood. The disease follows an autosomal recessive inheritance pattern, and diagnosis is often made by detecting elevated levels of GABA in plasma, cerebrospinal fluid, or urine, and is confirmed by genetic testing.
❓ What is GABA aminotransferase deficiency in Turkish?
The Turkish equivalent of "GABA aminotransferase deficiency" is GABA aminotransferaz eksikliği.
❓ Which medical field is GABA aminotransferaz eksikliği related to?
This term belongs to the Diseases category.