📂 Diseases
familial isolated deficiency of vitamin E — Definition
Ailesel İzole E Vitamini Eksikliği / familial isolated deficiency of vitamin E
Lack of family isolated vitamin E is a rare autozomal resessive disease that occurs as a result of alpha-tocopherol transfer protein (α-TTP) genetic mutation, responsible for the transportation of vitamin E (tokoferol). This condition leads to severe drop of vitamin E levels in plasma and causing damage to peripheral nerves. Clinically, often begins during childhood or adolescence, manifests itself with peripheral neuropathic and sensory losses. Early diagnosis and high dose can stop or slow the progress of neurological symptoms with oral vitamin E supplement.
Frequently Asked Questions
❓ What is Ailesel İzole E Vitamini Eksikliği?
Ailesel İzole E Vitamini Eksikliği; lack of family isolated vitamin E is a rare autozomal resessive disease that occurs as a result of alpha-tocopherol transfer protein (α-TTP) genetic mutation, responsible for the transportation of vitamin E (tokoferol). This condition leads to severe drop of vitamin E levels in plasma and causing damage to peripheral nerves. Clinically, often begins during childhood or adolescence, manifests itself with peripheral neuropathic and sensory losses. Early diagnosis and high dose can stop or slow the progress of neurological symptoms with oral vitamin E supplement.
❓ What is familial isolated deficiency of vitamin E in Turkish?
The Turkish equivalent of "familial isolated deficiency of vitamin E" is Ailesel İzole E Vitamini Eksikliği.
❓ Which medical field is Ailesel İzole E Vitamini Eksikliği related to?
This term belongs to the Diseases category.