mitochondrial DNA depletion syndrome type 5

(redirected from encephalomyopathic with methylamalonic aciduria)

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.
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