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GTR Home > Conditions/Phenotypes > Acyl-CoA dehydrogenase 9 deficiency

Acyl-CoA dehydrogenase 9 deficiency

Synonyms
Acyl-CoA dehydrogenase family, member 9, deficiency of; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

MC1DN20 is an autosomal recessive multisystem disorder characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with a deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts (summary by Haack et al., 2010). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. [from OMIM]

Available tests

65 tests are in the database for this condition.

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Clinical tests (65 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MC1DN20, NPD002, ACAD9
    Summary: acyl-CoA dehydrogenase family member 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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