Peroxisomal acyl CoA oxidase deficiency.
Article Details
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Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N
Peroxisomal acyl CoA oxidase deficiency.
J Pediatr. 2002 Jan;140(1):128-30.
- PubMed ID
- 11815777 [ View in PubMed]
- Abstract
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.