📂 Diseases
cerebral folate receptor alpha deficiency — Definition
Serebral folat reseptör alfa eksikliği / cerebral folate receptor alpha deficiency
Cerebral folate receptor alpha deficiency is a rare neurometabolic disease caused by mutations in the FOLR1 gene, which plays a critical role in folate transport in the brain. This condition negatively affects neurological development by leading to low levels of folate in the brain fluid. Clinical findings include epilepsy that begins in infancy, developmental regression, hypotonia, ataxia, and progressive neurological deterioration. Folinic acid supplementation in treatment can alleviate symptoms but cannot completely stop the progression of the disease.
Frequently Asked Questions
❓ What is Serebral folat reseptör alfa eksikliği?
Serebral folat reseptör alfa eksikliği; cerebral folate receptor alpha deficiency is a rare neurometabolic disease caused by mutations in the FOLR1 gene, which plays a critical role in folate transport in the brain. This condition negatively affects neurological development by leading to low levels of folate in the brain fluid. Clinical findings include epilepsy that begins in infancy, developmental regression, hypotonia, ataxia, and progressive neurological deterioration. Folinic acid supplementation in treatment can alleviate symptoms but cannot completely stop the progression of the disease.
❓ What is cerebral folate receptor alpha deficiency in Turkish?
The Turkish equivalent of "cerebral folate receptor alpha deficiency" is Serebral folat reseptör alfa eksikliği.
❓ Which medical field is Serebral folat reseptör alfa eksikliği related to?
This term belongs to the Diseases category.