Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1

**Semantic type:** Disease or Syndrome

**Definition:** A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).

**Synonyms:** - MC5DM1 - Mitochondrial Complex V Deficiency, Mitochondrial Type 1