Mitochondrial DNA Depletion Syndrome-9

**Semantic type:** Disease or Syndrome

**Definition:** A autosomal recessive condition caused by mutation(s) in the SUCLG1 gene, encoding succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial. It is characterized by infantile onset of hypotonia, lactic acidosis, developmental delay, cognitive impairment, and excretion of methylmalonic acid.

**Synonyms:** - MTDPS9