title: Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases.
abstract: Long-term effects of bone marrow transplantation (BMT) were evaluated in patients with I-cell disease, metachromatic leukodystrophy (MLD), Maroteaux-Lamy syndrome or Hunter syndrome (mild form). Donors were human leukocyte antigen (HLA)-matched siblings, and the follow-up periods were 24-71 months after BMT. The enzyme activities were increased in leukocytes, plasma or liver tissues compared with pre-BMT levels. A patient with I-cell disease acquired development of 4-8 month old infants and showed no further progression in cardiac dysfunctions. A patient with MLD showed a decelerated disease progression and an improved peripheral neuropathy, but progressive brain atrophy was not prevented. Patients with Maroteaux-Lamy syndrome or Hunter syndrome showed improvements in hepatomegaly, joint contractures, short stature and tight skin, and this greatly increased their quality of life. These results indicated that the long-term therapeutic effects achieved by BMT were subject to multiple factors including biochemical improvements, a reversibility of affected tissues, or advanced states of disease and central nervous system impairments in inborn errors of metabolism.
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Imaizumi
authors.forename: K
authors.initials: K
authors.lastname: Gushi
authors.forename: I
authors.initials: I
authors.lastname: Kurobane
authors.forename: S
authors.initials: S
authors.lastname: Inoue
authors.forename: J
authors.initials: J
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Koizumi
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: A
authors.initials: A
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Gotoh
authors.forename: K
authors.initials: K
authors.lastname: Haginoya
mesh_terms: D000293:Adolescent; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000628:therapy; D016464:Lysosomal Storage Diseases / Q000628:therapy*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000628:therapy*; D016532:Mucopolysaccharidosis II / Q000628:therapy; D009087:Mucopolysaccharidosis VI / Q000628:therapy; D013997:Time Factors; D016896:Treatment Outcome