📂 Diseases
mitochondrial DNA depletion syndrome 7 — Definition
mitokondriyal DNA tükenme sendromu tip 7 / mitochondrial DNA depletion syndrome 7
Mitokondriyal DNA depletion syndrome type 7 is a rare genetic disease with autozomal resessive transition, characterized by pronounced reduction in mitochondrial DNA in cells. It often occurs in hepatocerebral form and is observed neurological findings (hyotoni, development backrest) together with hepatic failure, hypoglyceemia, lactic acidosis. The disease is caused by mutations in MPV17 gene and leads to severe disruptions in energy production due to mitochondrial dysfunction. The symptoms starting in early childhood are often fast-containing and prognosis are often worse.
Frequently Asked Questions
❓ What is mitokondriyal DNA tükenme sendromu tip 7?
mitokondriyal DNA tükenme sendromu tip 7; mitokondriyal DNA depletion syndrome type 7 is a rare genetic disease with autozomal resessive transition, characterized by pronounced reduction in mitochondrial DNA in cells. It often occurs in hepatocerebral form and is observed neurological findings (hyotoni, development backrest) together with hepatic failure, hypoglyceemia, lactic acidosis. The disease is caused by mutations in MPV17 gene and leads to severe disruptions in energy production due to mitochondrial dysfunction. The symptoms starting in early childhood are often fast-containing and prognosis are often worse.
❓ What is mitochondrial DNA depletion syndrome 7 in Turkish?
The Turkish equivalent of "mitochondrial DNA depletion syndrome 7" is mitokondriyal DNA tükenme sendromu tip 7.
❓ Which medical field is mitokondriyal DNA tükenme sendromu tip 7 related to?
This term belongs to the Diseases category.