mitochondrial DNA depletion syndrome type 5

mitochondrial DNA depletion syndrome type 5

An autosomal recessive disorder (OMIM:612073) characterised by infantile-onset hypotonia, neurologic deterioration, a hyperkinetic-dystonia, external ophthalmoplegia, deafness, variable renal tubular dysfunction and mild methylmalonic aciduria.
Molecular pathology
Caused by defects of SUCLA2, which encodes the subunit of succinyl-CoA synthetase, an essential component of the tricarboxylic acid cycle.