PMID- 8165905
OWN - NLM
STAT- MEDLINE
DCOM- 19940525
LR  - 20220310
IS  - 0374-5600 (Print)
IS  - 0374-5600 (Linking)
VI  - 36
IP  - 1
DP  - 1994 Feb
TI  - Long-term effects of bone marrow transplantation for inborn errors of metabolism: 
      a study of four patients with lysosomal storage diseases.
PG  - 30-6
AB  - 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.
FAU - Imaizumi, M
AU  - Imaizumi M
AD  - Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
FAU - Gushi, K
AU  - Gushi K
FAU - Kurobane, I
AU  - Kurobane I
FAU - Inoue, S
AU  - Inoue S
FAU - Suzuki, J
AU  - Suzuki J
FAU - Koizumi, Y
AU  - Koizumi Y
FAU - Suzuki, H
AU  - Suzuki H
FAU - Sato, A
AU  - Sato A
FAU - Gotoh, Y
AU  - Gotoh Y
FAU - Haginoya, K
AU  - Haginoya K
AU  - et al.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - Acta Paediatr Jpn
JT  - Acta paediatrica Japonica : Overseas edition
JID - 0370357
SB  - IM
MH  - Adolescent
MH  - *Bone Marrow Transplantation
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Infant
MH  - Leukodystrophy, Metachromatic/therapy
MH  - Lysosomal Storage Diseases/*therapy
MH  - Male
MH  - Metabolism, Inborn Errors/*therapy
MH  - Mucopolysaccharidosis II/therapy
MH  - Mucopolysaccharidosis VI/therapy
MH  - Time Factors
MH  - Treatment Outcome
EDAT- 1994/02/01 00:00
MHDA- 1994/02/01 00:01
CRDT- 1994/02/01 00:00
PHST- 1994/02/01 00:00 [pubmed]
PHST- 1994/02/01 00:01 [medline]
PHST- 1994/02/01 00:00 [entrez]
AID - 10.1111/j.1442-200x.1994.tb03125.x [doi]
PST - ppublish
SO  - Acta Paediatr Jpn. 1994 Feb;36(1):30-6. doi: 10.1111/j.1442-200x.1994.tb03125.x.