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Wolman disease successfully treated by bone marrow transplantation
W Krivit1, C Peters, K Dusenbery
1Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.
Bone Marrow Transplantation
|October 6, 2000
Summary
Bone marrow engraftment successfully treated Wolman disease, a rare genetic disorder. This therapy normalized enzyme activity, resolved symptoms like diarrhea, and achieved long-term remission in a young patient.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Wolman disease is a rare, fatal autosomal recessive lysosomal acid lipase deficiency.
- Characterized by severe diarrhea, malnutrition, and adrenal calcification in infancy.
- Previous treatments have not achieved long-term remission.
Observation:
- Previous treatments for Wolman disease have been unsuccessful in achieving remission.
- A patient with Wolman disease underwent bone marrow transplantation.
- The procedure aimed to restore LAL enzyme activity and mitigate disease progression.
Findings:
- Successful long-term engraftment of bone marrow was achieved.
- Peripheral leukocyte LAL enzyme activity was normalized post-transplantation.
- The patient experienced resolution of diarrhea, normal cholesterol and triglyceride levels, and normal liver function.
Implications:
- This case represents the first reported long-term remission for Wolman disease.
- Bone marrow transplantation offers a potential therapeutic strategy for LAL deficiency.
- Restoration of LAL enzyme activity can reverse severe clinical manifestations and improve developmental outcomes.