Definition

A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3.

Synonyms

ACAD9 deficiency
Acyl-CoA dehydrogenase 9 deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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nuclear type mitochondrial complex I deficiency 20

nuclear type mitochondrial complex I deficiency 20

Associated Genes

Associated Alleles

Associated Models