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Definition

A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients.

Acronym

MTDPS5

Synonyms

Encephalomyopathic mitochondrial DNA depletion syndrome with or without methylmalonic aciduria
Mitochondrial DNA depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria
Mitochondrial DNA depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive SUCLA2-related

Keywords

Primary mitochondrial disease

 
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