MPS I Articles

General
Millington DS. Newborn screening for lysosomal storage disorders. Clin Chem. 2005; 51(5):898-900.

Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004; 144:S27-34

Neufeld EF and Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill, 2001; p 3421-

Peters C, Shapiro EG, Krivit W. Hurler syndrome: past, present, and future. J Pediatr 1998; 133:7-9.

Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 1995; 6:288-302.

Clinical
Allen JL Treatment of respiratory system (not just lung!) abnormalities in Mucopolysaccharidosis I. J Pediatr. 2004; 144:561-562.

Ard JL, Bekker A, Frempong-Boadu AK. Anesthesia for an adult with mucopolysaccharidosis I. J Clin anesth. 2005; 17(8):624-626.

Dumas HM, Fragala MA, Haley SM, Skrinar AM, Wraith JF, Cox GF. Physical performance testing in mucopolysaccharidosis I: pilot study. Pediatr Rehabil. 2004; 7(2):125-131.

Fuller M, Brooks DA, Evangelista M, Hein LK, Hopwood JJ, Meikle PJ. Prediction of neuropathology in mucopolysaccharidosis I patients. Mol Genet Metab. 2005; 84(1):18-24.

Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome [mucopolysaccharidosis type I). Curr Opin Rheumatol. 2005; 17(1):70-80.

Vijay S, Wraith JF. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr. 2005; 94(7):872-877.

Tandon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br 1996; 78:938-944.

Molecular
Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 2001; 109:503-511.

Moskowitz SM, Tieu PT, Neufeld EF. Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele. Hum Mutat 1993; 2:141-144.

Terlato NJ and Cox GF. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med 2003; 5:286-294.

Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF. Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). Hum Mutat 1995; 6:55-59.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat. 2004; 24(3):199-207.

Treatment
Braunlin EA, Stauffer NR, Peters CH, Bass JL, Berry JM, Hopwood JJ, Krivit W. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92:882-886.

Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, Chertkoff R, Vom Dahl S, Elstein D, Erikson A, Giralt M, Heitner R, Hollak C, Hrebicek M, Lewis S, Mehta A, Pastores GM, Rolfs A, Miranda MC, Zimran A. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 2003; 26:513-526.

Gassas A, Sung L, Doyle JJ, Clarke JT, Saunders EF. Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature. Bone Marrow Transplant 2003; 32:213-215.

Grewal SS, Wynn R, Abdenur JE, Burton BK, Gharib M, Haase C, Hayashi RJ, Shenoy S, Sillence D, Tiller GE, Dudek ME, van Royen-Kerkhof A, Wraith JE, Woodard P, Young GA, Wulffraat N, Whitley CB, Peters C. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genet Med. 2005; 7(2):143-146.

Grigull L, Beilken A, Schrappe M, Das A, Luecke T, Sander A, Stanulla M, Rehe K, Sauer M, Schmid H, Welte K, Lukaes Z, Gal A, Sykora KW. Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler). Bone Marrow Transplant. 2005; 35(3):265-269.

Kakavanos R, Turner CT, Hopwood JJ, Kakkis ED, Brooks DA. Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 2003; 361:1608-1613.

Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001; 344:182-188.

Liu Y, Xu L, Hennig AK, Kovacs A, Fu A, chung S, Lee D, Wang B, Herati RS, Mosinger Ogilvie J, Cai SR, Parker Ponder K. Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice. Mol ther. 2005; 11(1):35-47.

Miebach E. Enzyme replacement therapy in mucopolysaccharidosis type I. Acta Paediatr Suppl. 2005; 94(447):58-60.

Moores C, Rogers JG, McKenzie IM, Brown TC. Anaesthesia for children with mucopolysaccharidoses. Anaesth Intensive Care 1996; 24:459-463.

Muenzer J, Fisher A. Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 2004; 350(19):1960-1969.

Peters C, Balthazor M, Shapiro EG, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996; 87:4894-4902.

Peters C, Shapiro EG, Anderson J, Henslee-Downey PJ, Klemperer MR, Cowan MJ, Saunders EF, deAlarcon PA, Twist C, Nachman JB, Hale GA, Harris RE, Rozans MK, Kurtzberg J, Grayson GH, Williams TE, Lenarsky C, Wagner JE, Krivit W. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty- four children. The Storage Disease Collaborative Study Group. Blood 1998; 91:2601-2608.

Souillet G, Guffon N, Maire I, Pujol M, Taylor P, Sevin F, Bleyzac N, Mulier C, Durin A, Kebaili K, Galambrun C, Bertrand Y, Froissart R, Dorche C, Gebuhrer L, Garin C, Berard J, Guibaud P. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 2003; 31:1105-1117.

Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ, Krivit W, Kurtzberg J. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004; 350:1960-1969.

Van Heest AE, House J, Krivit W, Walker K. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. J Hand Surg [Am] 1998; 23:236-243.

Walker RW, Darowski M, Morris P, Wraith JE. Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia 1994; 49:1078-1084.

Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004; 24:97-101.

Whitley CB, Belani KG, Chang PN, Summers CG, Blazar BR, Tsai MY, Latchaw RE, Ramsay NK, Kersey JH. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 1993; 46:209-218.

Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004; 144:581-588.

Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother. 2005; 6(3):489-506.