title: A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase.
abstract: A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fibroblasts. She showed normal development until 8 months when she lost her ability of sitting alone after febrile infection, and died accidentally at 2 years and 4 months. A considerable residual enzyme activity may correlate to the milder clinical course of this case.
authors: Department of Pediatrics, Osaka University Hospital, Japan.
authors: S
authors: S
authors: Okada
authors: T
authors: T
authors: Kato
authors: H
authors: H
authors: Tanaka
authors: K
authors: K
authors: Takada
authors: Y
authors: Y
authors: Aramitsu
mesh_terms: D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency*; D005698:Galactosylceramidase / Q000172:deficiency*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology* / Q000503:physiopathology
chemical_list: D005696:Galactosidases; D005698:Galactosylceramidase