📂 Diseases
primary coenzyme Q10 deficiency 6 — Definition
Primer Koenzim Q10 Eksikliği Tip 6 / primary coenzyme Q10 deficiency 6
Primary coenzyme Q10 deficiency type 6 is a genetic disease that affects coenzyme Q10 synthesis in mitochondrial respiratory chain. This condition is characterized by muscle weakness, exercise intolerance and repetitive rabdomiolysis attacks. The disease shows autozomal resessive inheritance and is caused by mutations in the COQ6 gene. Clinical findings include sensory hearing loss and nephrotic syndrome.
Frequently Asked Questions
❓ What is Primer Koenzim Q10 Eksikliği Tip 6?
Primer Koenzim Q10 Eksikliği Tip 6; primary coenzyme Q10 deficiency type 6 is a genetic disease that affects coenzyme Q10 synthesis in mitochondrial respiratory chain. This condition is characterized by muscle weakness, exercise intolerance and repetitive rabdomiolysis attacks. The disease shows autozomal resessive inheritance and is caused by mutations in the COQ6 gene. Clinical findings include sensory hearing loss and nephrotic syndrome.
❓ What is primary coenzyme Q10 deficiency 6 in Turkish?
The Turkish equivalent of "primary coenzyme Q10 deficiency 6" is Primer Koenzim Q10 Eksikliği Tip 6.
❓ Which medical field is Primer Koenzim Q10 Eksikliği Tip 6 related to?
This term belongs to the Diseases category.