Mucopolysaccharidosis

Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue.

Types[edit | edit source]

There are several types of MPS, including:

Mucopolysaccharidosis type I (MPS I)
Mucopolysaccharidosis type II (MPS II)
Mucopolysaccharidosis type III (MPS III)
Mucopolysaccharidosis type IV (MPS IV)
Mucopolysaccharidosis type VI (MPS VI)
Mucopolysaccharidosis type VII (MPS VII)

Each type is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycans.

Symptoms[edit | edit source]

Symptoms of MPS may include:

Abnormal bone size or shape and other skeletal irregularities
Vision and hearing problems
Heart and lung problems
Hernia
Hydrocephalus
Mental retardation

Diagnosis[edit | edit source]

Diagnosis of MPS is based on clinical examination, identification of characteristic symptoms, and specialized laboratory tests, including genetic testing.

Treatment[edit | edit source]

Treatment of MPS is directed toward the specific symptoms that are apparent in each individual and may include enzyme replacement therapy (ERT), bone marrow transplant, and/or gene therapy.

References[edit | edit source]

External links[edit | edit source]

Mucopolysaccharidosis Resources
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