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Definition

A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3-methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance.

Acronym

MC5DN5

Synonyms

Mitochondrial complex V (ATP synthase) deficiency, ATP5F1D type

Keywords

Primary mitochondrial disease

 
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