Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome.
Hurler syndrome is a lysosomal storage disease resulting in fatal cardiac or neurologic sequelae unless alpha-iduronidase production is reconstituted with hematopoietic stem cell transplantation. We report on a 4-year, 6-month-old boy with mixed donor chimerism and low enzyme levels but a normal neurodevelopmental trajectory.
Conway
Jennifer
J
Department of Pediatrics, Division of Genetics, IWK Health Centre, Halifax, Nova Scotia, Canada.
Dyack
Sarah
S
Crooks
Bruce N A
BN
Fernandez
Conrad V
CV
D016026:Bone Marrow Transplantation; D002658:Developmental Disabilities / Q000517:prevention & control*; D006801:Humans; D007068:Iduronidase / Q000097:blood*; D007223:Infant; D008297:Male; D008059:Mucopolysaccharidosis I / Q000628:therapy*; D018183:Transplantation Chimera; D016896:Treatment Outcome
D007068:Iduronidase