![]() It is caused by an alteration in the gene that makes an enzyme called alpha-L-iduronidase. Overall, the MPS I Registry database contains a broad sample of the global patient population, providing a potentially useful tool for expanding knowledge of MPS I and facilitating evidence-based decisions about the optimal means of monitoring and treating affected individuals. Mucopolysaccharidosis I (MPS I) is a rare genetic disorder that affects many body systems and that leads to organ damage. Approximately 80% of the patients have received enzyme replacement therapy, hematopoietic stem cell transplantation, or both. Cardiac valve abnormalities, joint contractures, corneal clouding, and hernia are reported by over 70% of patients regardless of the age of symptom onset. Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease that is caused by mutations in IDUA, the gene that encodes the alpha-L-iduronidase. Patients with symptom onset before age 5 are more likely to have a gibbus, cognitive impairment, and pneumonia, whereas patients with symptom onset above age 5 are more likely to have carpal tunnel syndrome, myelopathy, and glaucoma. MPS 1 is a rare lysosomal disease affecting multiple parts of the body. Diagnosis was delayed by years to decades in several patients with Hurler-Scheie and Scheie syndromes. The mucopolysaccharidosis (MPS) diseases are a group of seven rare, genetic, metabolic disorders.1 They are often named after the person that first. These children often appear normal at birth with non-specific symptoms developing during the first year of life. Younger ages at symptom onset and disease diagnosis are associated with the severe Hurler syndrome, but there is overlap among syndromes. The severe form of MPS I is known as Hurler syndrome or MPS I H: Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and hearing impairment, heart disease, and a shortened lifespan. Syndrome diagnoses include 47% Hurler (severe form), 25% Hurler-Scheie (attenuated form with an intermediate phenotype), 13% Scheie (most attenuated form), and 15% unknown. The median current age of the patients is 9.0 years (range: 0.4-64.8). Aggregate data are summarized for the first 302 patients enrolled, representing entries from 24 countries. Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1 see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. The MPS I registry includes 987 MPS I patients worldwide, 60.9 of which have the most severe MPS I disorder, Hurler syndrome. This report outlines procedures for data collection and presents the recommended minimum schedule of assessments that comprise the disease-specific clinical and laboratory parameters that are tracked in the database. A global, observational disease registry has been established to characterize the course of disease and track clinical outcomes in patients with Mucopolysaccharidosis Type I (MPS I), a rare and treatable lysosomal storage disorder.
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