La presente revisión analiza la literatura científica disponible con relación al tamizaje de estas enfermedades mediante espectrometría de masas en tándem. [go.gale.com]

Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy. J Inherit Metab Dis. 2004;27(1):105-8. [medlineplus.gov]

In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. [genecards.org]

ACOX1 gene mutations prevent the peroxisomal straight-chain acyl-CoA oxidase enzyme from breaking down VLCFAs efficiently. As a result, these fatty acids accumulate in the body. [medlineplus.gov]