Peroxisomal acyl-CoA oxidase deficiency
Definition:
Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Clinically, it is characterized by neonatal hypotonia, seizures, severely delayed psychomotor development, and neurological deterioration.
References:
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[1]. Rosalba Carrozzo, et al. Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. [Content Brief]
[2]. Sacha Ferdinandusse, et al. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat. 2007 Sep;28(9):904-12. [Content Brief]
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