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1: J Pediatr. 2002 Jan;140(1):128-30.Click here to read Links

Peroxisomal acyl CoA oxidase deficiency.

Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N.

Department of Pediatrics and Medical Education Development Center, Gifu University School of Medicine, Japan.

Three Japanese patients with peroxisomal acyl coenzyme A oxidase deficiency who manifested psychomotor retardation and regression during the late infantile period showed characteristic patterns of demyelination in the ponto- medullary corticospinal tracts and in the cerebellar and cerebral white matter. Molecular investigations revealed 2 novel missense mutations, M278V and G178C.

PMID: 11815777 [PubMed - indexed for MEDLINE]