Mucolipidoses Information Page
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What are the Mucolipidoses?
Is there any treatment?
What are the Mucolipidoses?
The mucolipidoses are a group of inherited diseases characterized by genetic defects that cause problems with the metabolism of enzymes. These deficiencies result in bone and joint damage, and may cause severe complications in the organ systems of the body. The group includes four diseases:
- Mucolipidosis I (sialidosis)
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler polydystrophy)
- Mucolipidosis IV
Symptoms of the mucolipidoses include: mental retardation, impairment in the development of psychomotor skills, stiff or deformed joints, short stature, spinal curvature, claw-like hands, hip joint deterioration, fatigue, abnormalities of the skull and face, frequent respiratory infections, and clouding of the cornea. Mucolipidoses can be detected before birth, using prenatal screening tests. Some forms are more common among Ashkenazi Jews and French Canadians.
Is there any treatment?
Treatment for the mucolipidoses disorders is symptomatic and depends upon the severity of the disease. In some cases, surgery is necessary to correct bone or joint damage. Complications accompanying mucolipidoses are often treated with antibiotics.
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