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GTR Home > Conditions/Phenotypes > Acyl-CoA oxidase deficiency

Acyl-CoA oxidase deficiency

Synonyms
Peroxisomal acyl-CoA oxidase deficiency; Pseudoadrenoleukodystrophy; Pseudoneonatal adrenoleukodystrophy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995). [from OMIM]

Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACOX, AOX, MITCH, PALMCOX, SCOX, ACOX1
    Summary: acyl-CoA oxidase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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