Mitochondrial Complex I Deficiency (ACAD9-Related) (ACAD9)

Mitochondrial complex I deficiency (ACAD9-related) is a pan-ethnic, autosomal recessive disease that is caused by pathogenic variants in the ACAD9 gene. This metabolic disorder is associated with a deficiency in mitochondrial complex I, which results in a range of clinical manifestations including fatigue, exercise intolerance, generalized muscle weakness, lactic acidosis, hypertrophic cardiomyopathy, and liver failure. Severe episodes of brain edema and vomiting can lead to seizures and coma. Life expectancy is variable and no genotype-phenotype correlations have been reported.

For information about carrier frequency and residual risk, please see the residual risk table.