BACKGROUND: Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT). METHODS: We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT. RESULTS: Urinary glucosaminoglycan excretion decreased by 70% after one month of ERT. Liver volume decreased by 14% of baseline after 12 months of ERT. Pre-existing thoracolumbar kyphosis progressed to thoracolumbar dislocation with complete displacement of facets after 12 months of ERT. New development of mitral valve thickening was found by echocardiography and mild hearing loss progressed to severe sensorineural hearing loss after 13 months of ERT. CONCLUSIONS: ERT over a period of 14 months did not prevent progression of organ manifestations in our patient. Patients should be monitored every 6 months for cardiac, skeletal and audiological involvement on ERT.
BACKGROUND: Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT). METHODS: We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT. RESULTS: Urinary glucosaminoglycan excretion decreased by 70% after one month of ERT. Liver volume decreased by 14% of baseline after 12 months of ERT. Pre-existing thoracolumbar kyphosis progressed to thoracolumbar dislocation with complete displacement of facets after 12 months of ERT. New development of mitral valve thickening was found by echocardiography and mild hearing loss progressed to severe sensorineural hearing loss after 13 months of ERT. CONCLUSIONS: ERT over a period of 14 months did not prevent progression of organ manifestations in our patient. Patients should be monitored every 6 months for cardiac, skeletal and audiological involvement on ERT.
Authors: Satkiran S Grewal; Robert Wynn; Jose E Abdenur; Barbara K Burton; Maged Gharib; Claudia Haase; Robert J Hayashi; Shalini Shenoy; David Sillence; George E Tiller; Martha E Dudek; Annet van Royen-Kerkhof; James E Wraith; Paul Woodard; Guy A Young; Nico Wulffraat; Chester B Whitley; Charles Peters Journal: Genet Med Date: 2005-02 Impact factor: 8.822
Authors: Monica Sifuentes; Robin Doroshow; Richard Hoft; Greg Mason; Irwin Walot; Michael Diament; Susan Okazaki; Kenneth Huff; Gerald F Cox; Stuart J Swiedler; Emil D Kakkis Journal: Mol Genet Metab Date: 2006-09-29 Impact factor: 4.797
Authors: E D Kakkis; J Muenzer; G E Tiller; L Waber; J Belmont; M Passage; B Izykowski; J Phillips; R Doroshow; I Walot; R Hoft; E F Neufeld Journal: N Engl J Med Date: 2001-01-18 Impact factor: 91.245
Authors: James E Wraith; Lorne A Clarke; Michael Beck; Edwin H Kolodny; Gregory M Pastores; Joseph Muenzer; David M Rapoport; Kenneth I Berger; Stuart J Swiedler; Emil D Kakkis; Tanja Braakman; Elenie Chadbourne; Karen Walton-Bowen; Gerald F Cox Journal: J Pediatr Date: 2004-05 Impact factor: 4.406
Authors: C Peters; M Balthazor; E G Shapiro; R J King; C Kollman; J D Hegland; J Henslee-Downey; M E Trigg; M J Cowan; J Sanders; N Bunin; H Weinstein; C Lenarsky; P Falk; R Harris; T Bowen; T E Williams; G H Grayson; P Warkentin; L Sender; V A Cool; M Crittenden; S Packman; P Kaplan; L A Lockman; J Anderson; W Krivit; K Dusenbery; J Wagner Journal: Blood Date: 1996-06-01 Impact factor: 22.113
Authors: Angela C Sosa; Barbara Kariuki; Qi Gan; Alan P Knutsen; Clifford J Bellone; Miguel A Guzmán; Luis A Barrera; Shunji Tomatsu; Anil K Chauhan; Eric Armbrecht; Adriana M Montaño Journal: J Clin Invest Date: 2020-03-02 Impact factor: 14.808
Authors: Christiane S Hampe; Jacob Wesley; Troy C Lund; Paul J Orchard; Lynda E Polgreen; Julie B Eisengart; Linda K McLoon; Sebahattin Cureoglu; Patricia Schachern; R Scott McIvor Journal: Biomolecules Date: 2021-01-29