title: Peroxisomal acyl CoA oxidase deficiency.
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.
authors.affiliation: Department of Pediatrics and Medical Education Development Center, Gifu University School of Medicine, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Mizue
authors.initials: M
authors.lastname: Iai
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kamei
authors.forename: Yuzo
authors.initials: Y
authors.lastname: Tanabe
authors.forename: Shoichi
authors.initials: S
authors.lastname: Chida
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Zhongyi
authors.initials: Z
authors.lastname: Zhang
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Takemoto
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000214:Acyl Coenzyme A / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D020675:Peroxisomes / Q000201:enzymology*
chemical_list: D000214:Acyl Coenzyme A