TY - JOUR
T1 - Diagnosis, classification and treatment of mucopolysaccharidosis type I
AU - Langereis, Eveline J.
AU - van Vlies, Naomi
AU - Wijburg, Frits A.
PY - 2015
Y1 - 2015
N2 - Introduction: Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease. Impaired degradation of glycosaminoglycans triggers complex pathophysiological cascades, leading to a heterogeneous multisystem disorder. Two treatment modalities are available: enzyme replacement therapy and hematopoietic stem cell transplantation. Despite these treatments, a significant residual disease burden is observed in most patients. Areas covered: This review provides an overview of the currently known pathophysiological mechanisms underlying disease manifestations in MPS I. Additionally, the clinical presentation of the wide phenotypic spectrum is discussed, as well as methods for the phenotypical classification of patients and available treatment options, with a special focus on the treatment of residual disease. Expert opinion: Residual disease is currently the most pressing issue in MPS I, often requiring multiple surgical interventions. Several strategies are being explored to decrease the residual disease burden including modifications to the current treatment regimens and new therapeutic approaches. Optimal management of disease manifestations requires international collaboration and a standardized follow-up to collect essential clinical data
AB - Introduction: Mucopolysaccharidosis type I (MPS I) is a progressive lysosomal storage disease. Impaired degradation of glycosaminoglycans triggers complex pathophysiological cascades, leading to a heterogeneous multisystem disorder. Two treatment modalities are available: enzyme replacement therapy and hematopoietic stem cell transplantation. Despite these treatments, a significant residual disease burden is observed in most patients. Areas covered: This review provides an overview of the currently known pathophysiological mechanisms underlying disease manifestations in MPS I. Additionally, the clinical presentation of the wide phenotypic spectrum is discussed, as well as methods for the phenotypical classification of patients and available treatment options, with a special focus on the treatment of residual disease. Expert opinion: Residual disease is currently the most pressing issue in MPS I, often requiring multiple surgical interventions. Several strategies are being explored to decrease the residual disease burden including modifications to the current treatment regimens and new therapeutic approaches. Optimal management of disease manifestations requires international collaboration and a standardized follow-up to collect essential clinical data
U2 - https://doi.org/10.1517/21678707.2015.1016908
DO - https://doi.org/10.1517/21678707.2015.1016908
M3 - Review article
SN - 2167-8707
VL - 3
SP - 307
EP - 320
JO - Expert opinion on orphan drugs
JF - Expert opinion on orphan drugs
IS - 3
ER -