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Definition

An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues.

Acronym

COXPD47

Keywords

Primary mitochondrial disease

 
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