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MucolipidosesTable of Contents (click to jump to sections)What are Mucolipidoses? Is there any treatment? What is the prognosis? What research is being done? Organizations Publicaciones en Español What are Mucolipidoses? The group includes four diseases:
The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Patients with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs. The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs. Is there any treatment? No cure for ML currently exists. Therapies are generally geared toward treating symptoms and providing supportive care to the child. For individuals with corneal clouding, surgery to remove the thin layer over the eye has been shown to reduce the cloudiness
in the eye. However, this improvement is only temporary. Physical and occupational therapy may help children with motor delays. Children with language delays may benefit from speech therapy. Children at risk for failure to thrive (growth failure) may need nutritional supplements, especially iron and vitamin B12
for patients with ML IV. Respiratory infections should be treated immediately and fully with antibiotics.
What is the prognosis? What research is being done? Through these and other research efforts, scientists are optimistic that they will one day discover treatments or even prevention
strategies for the MLs.
Select this link to view a list of studies currently seeking patients.
Prepared by: NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history. All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated. Last updated July 25, 2007 This information has been provided by The National Institute of Neurological Disorders and Stroke (NINDS). |