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Definition

An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction.

Acronym

MC1DN20

Synonyms

ACAD9 deficiency
Acyl-CoA dehydrogenase family, member 9, deficiency
Mitochondrial complex I deficiency due to ACAD9 deficiency

Keywords

Primary mitochondrial disease

 
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