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