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Mucopolysaccharidosis II .

What is Mucopolysaccharidosis II (MPS II)?

Mucopolysaccharidosis II (MPS II), also known as Hunter Syndrome, is a rare, inherited metabolic disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which results in the buildup of glycosaminoglycans, particularly dermatan sulfate and heparan sulfate, in the body’s cells and tissues.

People affected by MPS II often suffer from physical, intellectual, behavioral and social challenges as a result of the disease. After diagnosis, they may experience progressive deterioration of mental and physical abilities.

Symptoms of Mucopolysaccharidosis II (MPS II)

Common symptoms of MPS II include:

  • Cognitive deficits, including developmental delays, learning difficulties and eventually dementia
  • A slow decline of motor skills, eventually leading to wheelchair dependence
  • Joint stiffness and pain
  • Long head shape and a broad facial profile
  • Enlargement of the spleen and liver
  • Enlarged hernias
  • Frequent upper respiratory infections
  • Hoarse, deep voice due to airway obstruction
  • Cardiomyopathy and cardiac valvular regurgitation
  • Recurrent ear, sinus and throat infections
  • Severe skeletal deformities

Diagnosis of Mucopolysaccharidosis II (MPS II)

MPS II is usually diagnosed in infancy or early childhood, during routine health screenings. Diagnosis is based on clinical findings, a family history, biochemical tests, and enzyme studies such as the concentration of lysosomal enzymes in the white blood cells and/or urine.

Treatment of Mucopolysaccharidosis II (MPS II)

Currently, there is no cure for MPS II. Treatment focuses on managing symptoms and restoring lost function. Treatment options may include:

  • Enzyme replacement therapy: In this treatment, doctors inject an enzyme that replaces the lysosomal enzyme that is missing or deficient.
  • Bone marrow transplantation: This procedure is used to replace the defective cells of the immune system with healthy, functioning ones.
  • Steroid therapy: To reduce inflammation and manage other symptoms such as joint and muscle stiffness.
  • Physical, occupational, speech and language, and psychological therapies: To help maintain and improve functioning.

Prognosis of Mucopolysaccharidosis II (MPS II)

The prognosis for MPS II depends on the severity of symptoms. Those with mild symptoms may live into adulthood. However, those with severe forms of the disorder usually experience progressive deterioration of mental and physical abilities and live into their teenage years.

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