MUCOPOLYSACCHARIDOSIS TYPE II

Mucopolysaccharidosis type II (MPS II) is a carbohydrate metabolism disorder passed down from father to son and affects almost only men. It causes unique facial features, a big head, hydrocephalus, liver and spleen enlargement (hepatosplenomegaly), an umbilical or inguinal hernia, and hearing loss.

Moreover, people with this condition may also have deformed joints and problems with the valves of their hearts. MPS II is caused by changes in the IDS gene and is passed down through the X chromosome.

SYMPTOMS

Children with mucopolysaccharidosis type II often don’t show any signs of the disease when they are born. Most people with severe MPS II start to show signs and symptoms between the ages of 18 months and four years. MPS II that gets worse slowly usually doesn’t show any signs for a couple of years after it starts.

People with MPS II usually develop:

  • Faces with rougher features, like full lips, rounded cheeks, and a wide nose
  • Tongue and vocal cords that are too big

With MPS II, the head, liver, and spleen can all get more significant, as can many other organs and tissues.

They might also have:

  • Joint stiffness and dysostosis multiplex
  • Carpal tunnel syndrome
  • Valvular heart disease
  • Hydrocephalus
  • Diarrhea
  • Frequent upper respiratory infections
  • Recurrent ear infections
  • Hearing loss
  • Hernias

DIAGNOSIS

Early diagnosis is complicated because the symptoms of mucopolysaccharidosis type II are similar to those of many more common diseases.

A physical exam and one of the following are used to make a diagnosis:

  • Low activity of the iduronate 2-sulfatase enzyme
  • GAGs in the blood or urine that are too high

TREATMENT

There is no cure for MPS II right now, but there are ways to treat it.

Enzyme replacement therapy (ERT) is a way to replace a missing or deficient enzyme in the body by giving a solution through a vein. One ERT, Elaprase (idursulfase), is offered every other week as an infusion. Even though the treatment doesn’t cross the blood-brain barrier or improve the effects on the central nervous system (CNS), it has been shown to improve many physical signs and symptoms of mucopolysaccharidosis type II. The main goal of treatment for MPS II is to control the different symptoms.

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