mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

Rare Disease

MONDO:0013546

Also Known As

MC5DN2mitochondrial complex V (ATP synthase) deficiency, nuclear type 2mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiencymitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiencymitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiencyneonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency3-MGCA type IV (3-MGCA-4) (formerly)TMEM70 defectTMEM70-related mitochondrial encephalo-cardio-myopathyencephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiencymitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type

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.