Peroxisomal Acyl CoA Oxidase Deficiency

J Pediatr. 2002 Jan;140(1):128-30. doi: 10.1067/mpd.2002.120511.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl Coenzyme A / deficiency*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Peroxisomes / enzymology*

Substances

  • Acyl Coenzyme A