title: Challenge of phenotype estimation for optimal treatment of Krabbe disease.
abstract: Krabbe disease is an autosomal recessive, inherited demyelinating disease caused by deficiency of the lysosomal enzyme galactocerebrosidase. It is recognized as one of the predominant genetic diseases showing leukodystrophy from infancy to adulthood. The clinical phenotype and genotype for this disease show considerable variation worldwide, which makes accurate diagnosis difficult. Effective therapy is limited, although hematopoietic stem cell transplantation at an early stage has been established to some extent. We report here the long-term clinical effect on juvenile Krabbe disease for two brothers who underwent hematopoietic stem cell transplantation at an early stage of their disease. We review research into genotype-phenotype correlation for the possibility of early diagnosis at a presymptomatic stage. Medical care for this intractable disease will improve in the near future as a result of the increasing awareness of its molecular pathology and improvements in medical treatment. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Child Healthcare and Genetic Science Laboratory, Division of Health Science, Osaka University Graduate School of Medicine, Osaka, Japan. norio@sahs.med.osaka-u.ac.jp.
authors.forename: Norio
authors.identifier: 0000-0003-3374-6709
authors.initials: N
authors.lastname: Sakai
authors.affiliation: Department of Genetics, Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Takanobu
authors.initials: T
authors.lastname: Otomo
mesh_terms: D000818:Animals; D005698:Galactosylceramidase / Q000172:deficiency* / Q000235:genetics; D056726:Genetic Association Studies; D005838:Genotype; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009154:Mutation / Q000235:genetics; D010641:Phenotype
chemical_list: D005698:Galactosylceramidase
keywords: genotype-phenotype correlation; globoid-cell leukodystrophy; hematopoietic stem cell transplantation; newborn screening