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Definition

A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid.

Acronym

MTDPS9

Synonyms

Fatal infantile lactic acidosis
Mitochondrial DNA depletion syndrome 9 encephalomyopathic type with methylmalonic aciduria

Keywords

Primary mitochondrial disease

 
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