Peroxisomal acyl-CoA oxidase deficiency
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.
- 1. Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Peroxisomal acyl-CoA-oxidase deficiency: two new cases. (2008) American journal of medical genetics. Part A. 146A (13): 1676-81. doi:10.1002/ajmg.a.32298 - Pubmed