Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Definition
Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the TMEM70 gene. It is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
Also known as MC5DN2, mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency — per MONDO