mitochondrial complex V (ATP synthase) deficiency nuclear type 4 — Definition

Mitokondriyal kompleks V (ATP sentaz) eksikliği nükleer tip 4; the deficiency of Mitokondriyal complex V (ATP centase) is a rare genetic disease that occurs as a result of mutations in nuclear DNA-borne subunits of ATP centaz, the last enzyme of the mitochondrial respiratory chain. This deficiency leads to damage in tissues (brain, heart, muscle) which is particularly high energy requirement, leading to degradation in cellular energy production. Clinical findings include progressive encephalopathy, hypotoni, development backrest, lactic acidosis and cardiomiopathy.

The Turkish equivalent of "mitochondrial complex V (ATP synthase) deficiency nuclear type 4" is Mitokondriyal kompleks V (ATP sentaz) eksikliği nükleer tip 4.

This term belongs to the Diseases category.