Peroxisomal acyl CoA oxidase deficiency.
case_report · Level V
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- Record sourced from PubMed, PMID 11815777.
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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.
Medical subject headings
- Acyl Coenzyme A
- Peroxisomes