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.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
Mucopolysaccharidosis Resources | ||
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Contributors: Prab R. Tumpati, MD