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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.




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


Primary mitochondrial disease


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