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To report an adverse event or product quality complaint, call 1-877-TAKEDA-7 (1-877-825-3327)
Not actual patients.
Mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, was first identified by the Canadian physician Charles Hunter.2 MPS II is one of more than 70 lysosomal storage diseases. These inherited metabolic diseases are characterized by the progressive accumulation of lysosomal waste products, ultimately causing the deterioration of cellular and tissue function.3,4 In the case of MPS II, loss of enzyme activity causes the accumulation of glycosaminoglycans (GAGs) in cells, which leads to progressive tissue and organ damage throughout the body.1,2,5
MPS II is a rare disease with an estimated incidence of 1 in 60,000 to 1 in 150,000 live births, although rates are higher in certain ethnicities such as Ashkenazi Jews.2 The disease is X-linked and is diagnosed predominantly in males between 18 to 36 months of age.2,4,6 Females are typically asymptomatic heterozygous carriers, although there are rare cases of affected females through skewing of X-chromosome inactivation.2,5,6
MPS II is caused by a deficiency in the iduronate-2-sulfatase enzyme (IDS, EC 3.1.6.13), which catalyzes GAG breakdown by the removal of sulfate groups.1,2,4 In MPS II, GAGs accumulate in the tissues of multiple organ systems along with increased excretion of their breakdown products, heparan and dermatan, in the urine.2,4 Enzyme deficiency is most often due to protein misfolding, decreased production or decreased catalytic activity, rather than a complete lack of enzyme. Over 580 variants have been identified and are distributed over the entire IDS gene as small and large deletions, missense, nonsense and splicing variants, with about 25% of variants arising de novo.7 MPS II is also characterized by clinical heterogeneity, and due to its rarity, there is a poor understanding of the correlation between genotype and phenotype.7,8 However, the disease is often described as having two main phenotypes: severe, which is more common and caused by deletions or rearrangements that abolish iduronate-2-sulfatase (I2S) transcription; and attenuated, which lack cognitive impairment and developmental regression.2,8
The presentation of MPS II can vary widely among patients depending on the organs involved.6,8,9 MPS II has some distinct physical characteristics, like short stature; a broad chest; coarse facial features; enlarged tongue, tonsils and adenoids; and thickening of the skin causing a “pebbly” appearance.4,9,10,11 Two thirds of patients have the severe form and experience progressive cognitive decline.2,5 Upper airway obstruction, cardiopulmonary disease and orthopedic sequelae are ultimately responsible for early death in patients with MPS II patients by 10 to 15 years of age.2,4,12
Due to its clinical heterogeneity, the path to MPS II diagnosis is often long and indirect.1,8 Patients with severe MPS II are diagnosed earlier due to cognitive regression, typically between 18 to 36 months. For patients with attenuated MPS II, it can take much longer to make the diagnosis, until age 4 to 8, since these patients do not have neurodegeneration and may or may not have learning disabilities.4 Biochemical testing is essential to confirm clinical suspicion, and is part of 3 major categories of tests: 1) assessment of GAG levels in blood or urine, 2) assessment of I2S activity in dried blood spots, and 3) genotyping of iduronate-2-sulfatase gene.5,13,14 Total urinal GAG is often the first test, but as it is non-specific it necessitates further confirmation by enzymatic and genetic testing.5 Enzymatic testing is limited because it cannot determine carrier status or predict disease severity.4 Prenatal diagnosis via I2S enzyme assays or molecular testing in chorionic villi or amniotic fluid cells may be available at some centers.8
There is no cure for MPS II.15 Currently, the goal of pharmacologic intervention is to replace the missing or deficient enzyme.2, 4 MPS II is a multi-systemic disease, and management requires involvement of specialized professionals in each of the affected organ systems (e.g. physical, occupational, and behavioral therapists, among others).4,5
Listen to podcasts focused on Hunter Syndrome (MPS II).
Drs. Barbara Burton and Tamanna Roshan Lal provide an overview of MPS II (Hunter syndrome) and discuss the role of newborn screening in improving patient outcomes.
Watch videos focused on Hunter Syndrome (MPS II).
Learn about diagnosing two rare diseases: Gaucher Disease and MPS II (Hunter syndrome).
This resource provides information on Takeda medications available in the Hunter Syndrome category and is not intended to represent a complete list of therapeutic options.
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This is not intended to be a comprehensive resource of all congresses and congress materials across therapeutic and disease areas. Congress materials may include information about investigational use(s) of compounds/products that are not approved for use by the U.S. Food and Drug Administration (FDA) and/or are inconsistent with the Prescribing Information. Takeda does not recommend the use of any Takeda product beyond the approved labeling. Any decisions regarding the usage of a Takeda product beyond the approved labeling are left to the discretion of the healthcare professional. Takeda makes no representations about whether investigational compounds or unapproved uses will be approved by the FDA.
The NSGC Annual Conference is the largest conference devoted to the educational and professional needs of genetic counselors.
The premier global congress from the world's largest professional society serving both clinicians and scientists working in malignant and classical hematology.
Annual research conference designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in the latest research on lysosomal diseases.
Annual meeting to present both research and clinical topics that promote the science and the practice of clinical genetics and genomics.
ASHG provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics and genomics.
The APHL Newborn Screening Symposium will address state, national and international newborn screening, genetic testing and policy issues important to public health newborn screening systems. Topics include molecular technologies, current and upcoming conditions, quality improvement, communicating with families and the public, short- and long-term follow-up and more.
Annual research conference designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in the latest research on lysosomal diseases.
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