Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

January 2011
Orphanet Journal of Rare Diseases;2011, Vol. 6 Issue 1, p55
Academic Journal
The article presents a European consensus procedure which showed the use of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) in the treatment of patient having mucopolysaccharidosis type I (MPS I). In this procedure a panel of specialists developed consensus-based statements on MPS I treatment. It informs that consensus procedure presented some issues which are related with therapeutic choices and research for MPS I.


Related Articles

  • Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.  // Current Medical Literature: Lysosomal Storage Disease;2012, Vol. 10 Issue 1, p28 

    The article focuses on the study regarding the use of hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) for the diagnosis of mucopolysaccharidosis type (MPS I) I patients. It states that MPS IH can in early death, usually within the first 20 years of life, if left...

  • Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments. Sawamoto, Kazuki; Stapleton, Molly; Alméciga-Díaz, Carlos J.; Espejo-Mojica, Angela J.; Losada, Juan Camilo; Suarez, Diego A.; Tomatsu, Shunji // Drugs;Jul2019, Vol. 79 Issue 10, p1103 

    Mucopolysaccharidoses (MPS) are inborn errors of metabolism produced by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans (GAGs). Although taken separately, each type is rare. As a group, MPS are relatively frequent, with an overall estimated incidence of...

  • Mukopolysacharidóza I - klinické projevy u 24 dÄ•tí z ÄŒeské republiky a Slovenska. Ješina, P.; Magner, M.; Poupĕtová, H.; Honzíkova, J.; Dvořáková, L.; Malinová, V.; Hrubá, E.; Hlavatá, A.; Honzík, T.; Veselá, K.; Sedláček, P.; Starý, J.; Zeman, J. // Czecho-Slovak Pediatrics / Cesko-Slovenska Pediatrie;Jun2011, Vol. 66 Issue 4, p215 

    Mucopolysaccharidosis I (MPS I) is severe metabolic storage disease caused by impaired function of α-L-iduronidase. The aim of this study is to describe clinical symptoms, natural course and to evaluate results of treatment in Czech and Slovak children with MPS I. Methods: Study group...

  • Current and emerging treatments and surgical interventions for Morquio A syndrome: a review. Tomatsu, Shunji; Mackenzie, William G.; Theroux, Mary C.; Mason, Robert W.; Thacker, Mihir M.; Shaffer, Thomas H.; Monta�o, Adriana M.; Rowan, Daniel; Sly, William; Alm�ciga-D�az, Carlos J.; Barrera, Luis A.; Chinen, Yasutsugu; Yasuda, Eriko; Ruhnke, Kristen; Suzuki, Yasuyuki; Orii, Tadao // Research & Reports in Endocrine Disorders;2012 Part 2, p65 

    Patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) have accumulation of the glycosaminoglycans, keratan sulfate, and chondroitin-6-sulfate, in bone and cartilage, causing systemic spondyloepiphyseal dysplasia. Features include lumbar gibbus, pectus carinatum, flaring of...

  • Novel Therapies.  // Current Medical Literature: Lysosomal Storage Disease;2009, Vol. 8 Issue 3, p112 

    The article presents a study which reveals the outcome of haematopoietic stem cell transplantation (HSCT) in six children with mucopolysaccharidosis type IH. During the study, the children were assessed using a developmental before and after the application of HSCT. Researchers conclude that the...

  • Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation. Polgreen, L. E.; Plog, M.; Schwender, J. D.; Tolar, J.; Thomas, W.; Orchard, P. J.; Miller, B. S.; Petryk, A. // Bone Marrow Transplantation;Sep2009, Vol. 44 Issue 5, p279 

    Children with Hurler syndrome experience progressive growth failure after hematopoietic cell transplantation (HCT). The goal of this study was to review the safety and efficacy of growth hormone (GH) in eight children with Hurler syndrome who were treated at our institution with GH for short...

  • Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure. Boelens, J. J.; Wynn, R. F.; O'Meara, A.; Veys, P.; Bertrand, Y.; Souillet, G.; Wraith, J. E.; Fischer, A.; Cavazzana-Calvo, M.; Sykora, K. W.; Sedlacek, P.; Rovelli, A.; Uiterwaal, C. S. P. M.; Wulffraat, N. // Bone Marrow Transplantation;Aug2007, Vol. 40 Issue 3, p225 

    Hurler's syndrome (HS), the most severe form of mucopolysaccharidosis type-I, causes progressive deterioration of the central nervous system and death in childhood. Allogeneic stem cell transplantation (SCT) before the age of 2 years halts disease progression. Graft failure limits the success of...

  • An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. Kingma, Sandra D. K.; Langereis, Eveline J.; De Klerk, Clasine M.; Zoetekouw, Lida; Wagemans, Tom; IJlst, Lodewijk; Wanders, Ronald J. A.; Wijburg, Frits A.; van Vlies, Naomi // Orphanet Journal of Rare Diseases;2013, Vol. 8 Issue 1, p1 

    Introduction: Mucopolysaccharidosis type I (MPS I) is a progressive multisystem lysosomal storage disease caused by deficiency of the enzyme α-L-iduronidase (IDUA). Patients present with a continuous spectrum of disease severity, and the most severely affected patients (Hurler phenotype; MPS...

  • Molecular basis, diagnosis and clinical management of mucopolysaccharidoses. Parini, Rossella; Bertola, Francesca; Russo, Pierluigi // Cardiogenetics;2013, Vol. 3 Issue 1s, p2 

    Mucopolysaccharidoses (MPSs) are a group of hereditary, monogenic disorders caused by lysosomal storage of glycosaminoglycans. Their incidence as a group is between 1:25,000 and 1:45,000. At present 11 different enzyme deficiencies are know to be responsible of 7 similar but distinct diseases....


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics