📂 Diseases
multiple mitochondrial dysfunctions syndrome 2 — Definition
multipl mitokondriyal disfonksiyon sendromu 2 / multiple mitochondrial dysfunctions syndrome 2
Mitokondriyal is a disease with autozomal resessive transition, caused by mutations in the NFU1 gene, which plays a role in the merger of respiratory chain complexes. It is characterized by progressive neurological degradation, metabolic acidosis, hyperglysine and pulmonary hypertension, starting in early childhood. The disease leads to multiple organ failure due to severe disruption in the production of mitochondrial energy and often result in early death.
Frequently Asked Questions
❓ What is multipl mitokondriyal disfonksiyon sendromu 2?
multipl mitokondriyal disfonksiyon sendromu 2; mitokondriyal is a disease with autozomal resessive transition, caused by mutations in the NFU1 gene, which plays a role in the merger of respiratory chain complexes. It is characterized by progressive neurological degradation, metabolic acidosis, hyperglysine and pulmonary hypertension, starting in early childhood. The disease leads to multiple organ failure due to severe disruption in the production of mitochondrial energy and often result in early death.
❓ What is multiple mitochondrial dysfunctions syndrome 2 in Turkish?
The Turkish equivalent of "multiple mitochondrial dysfunctions syndrome 2" is multipl mitokondriyal disfonksiyon sendromu 2.
❓ Which medical field is multipl mitokondriyal disfonksiyon sendromu 2 related to?
This term belongs to the Diseases category.