Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy

M A Kurian; S Ryan; G T N Besley; R J A Wanders; M D King

doi:10.1023/b:boli.0000016687.88818.6d

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. doi: 10.1023/b:boli.0000016687.88818.6d.

Authors

M A Kurian¹, S Ryan, G T N Besley, R J A Wanders, M D King

Affiliation

¹ Department of Paediatric Neurology, The Children's University Hospital, Dublin, Ireland.

PMID: 15065573
DOI: 10.1023/b:boli.0000016687.88818.6d

Abstract

We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / etiology*
Acyl-CoA Oxidase / deficiency*
Autistic Disorder / etiology*
Brain Diseases / diagnosis
Brain Diseases / etiology*
Brain Stem / pathology
Cerebellum / pathology
Female
Hearing Loss, Sensorineural / etiology
Hepatomegaly / etiology
Humans
Infant
Magnetic Resonance Imaging
Metabolism, Inborn Errors / complications*

Substances

Acyl-CoA Oxidase