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Definition

An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement.

Acronym

MTDPS15

Synonyms

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Keywords

Primary mitochondrial disease

 
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