Peroxisomal acyl-CoA oxidase deficiency

Last revised by Frank Gaillard on 14 Mar 2019

Peroxisomal acyl-CoA oxidase deficiency, also known as pseudo-neonatal adrenoleukodystrophy or just pseudoadrenoleukodystrophy, is a very rare autosomal recessive inborn error of metabolism due to deficiency of the enzyme Acyl-Coa oxidase (encoded by ACOX1 gene, 17q25.1) that results in the accumulation of very long chain fatty acids 1. The condition shares some similarities with the far more common X-linked adrenoleukodystrophy

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