Albany, NY — 12/07/2017 — The first individual with X-linked Mucopolysaccharidosis (MPS) was first reported in 1917 by a clinician named Hunter. Hunter syndrome is known to occur almost exclusively in males and is characterized by distinctive facial features such as puffy lips, a large head, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). Mucopolysaccharidosis II (MPS II)/ Hunter syndrome is caused by mutations in the IDS (iduronate 2-sulfatase) gene and is inherited in an X-linked manner. Hunter syndrome is a complex debilitating disease that leads to various anatomical and physiological anomalies with increasing age.

At birth, individuals with MPS II do not display any features of the condition. But with increasing age, the patient develops the above mentioned conditions. Moreover, the vocal cords also expand, which leads to a deep, hoarse voice. An enlarged tongue (macroglossia) and narrowing of the trachea results in upper respiratory infections and sleep apnea. As the syndrome develops, patients need medical assistance to keep their airway open. Patients with this disorder often develop an enlarged liver and spleen (hepatosplenomegaly), a large head (macrocephaly) and fluid buildup in the brain (hydrocephalus), umbilical hernia or lower abdomen hernia (inguinal hernia).

The patients additionally have joint deformities and heart defects including the valves. Most individuals also develop hearing loss and have recurring ear infections. The patient also faces difficulties with the retina and has reduced vision. The effects on other bone joints, such as hips and knees, can lead to increased difficulties in walking normally. Hunter syndrome can also lead to development of carpal tunnel syndrome in young children resulting in a further decrease in hand function. The effect on bones results in short stature. Furthermore, pebbly, white skin lesions can be seen on the upper arms, legs, and back of some individuals with Hunter syndrome. The level and severity of progression is different for every individual with Hunter syndrome.

Although Hunter syndrome is associated with a wide range in severity of symptoms present in individuals, it has been classified as severe and mild/attenuated. The differences between the severe and attenuated forms are mainly characterized by the progressive development of neurodegeneration in the severe form. Hunter syndrome is a rare disorder affecting 1 in 100,000 to 1 in 150,000 males. As per an estimate 1 in 25,000 births result in some form of MPS in the United States. The obvious symptoms and signs of Hunter syndrome (MPS II) in younger people are typically the first indications leading to a diagnosis.

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A variety of diagnostic tests can be done to determine the presence of Hunter syndrome in an individual including genetic testing, and iduronate-2-sulfatase (I2S) enzyme activity test. The most frequently used laboratory screening test for an MPS disorder is a urine test for GAGs. It is important to note that a child can be suffering from an MPS syndrome and the urine test for GAG can still show normal results. A decisive diagnosis of Hunter syndrome can be done by determining I2S activity in white blood cells, serum, or fibroblasts from skin biopsy. Hunter syndrome can also be preventively detected effectively by prenatal diagnosis of I2S enzymatic activity in amniotic fluid.

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The treatment regime for Hunter syndrome is determined depending on the severity of the symptoms and varies from patient to patient and on a case to case basis. Since there is no permanent cure for Hunter syndrome, the treatment mainly focuses on management of signs, indications, and complications associated with the disease progression.

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Palliative care is given to manage various conditions such as addressing heart complications, relief for respiratory complications, managing behavioral and neurological complications, addressing sleep issues, and treatment for skeletal and connective tissue problems. Some novel treatment approaches such as enzyme and gene therapy that are in early phases of development have helped in slowing the disease's progress and lessening its severity, making the Mucopolysaccharidosis II (MPS II)/ Hunter syndrome treatment market a promising avenue for research and development.

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