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NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.

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Mucolipidoses

The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe mental retardation and skeletal deformities. The group includes four diseases:Mucolipidosis I (sialidosis)Mucolipidosis II (inclusion-cell, or I-cell, disease)Mucolipidosis III (pseudo-Hurler polydystrophy)Mucolipidosis IVThe 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.

Treatment

No cures or specific therapies 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 may be 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.

Prognosis

Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

Research

Discovery of the ML genes is enabling NINDS researchers to study the genes' function and will facilitate studies on drugs that may lead to effective treatments. In addition, investigators at grantee institutions are conducting studies on an animal model, Caenorhabditis elegans, which is frequently used to determine the effects of genetic mutations. Other grantees are using the fruit fly model, Drosophila, to study a mutation in the ML IV gene. And one of the research teams involved in the discovery of the ML IV gene is conducting further genetic studies to explore the normal and abnormal functions of the ML IV gene. Through these and other research efforts, scientists are optimistic that they will one day discover treatments or even prevention strategies for the MLs.

View a list of studies currently seeking patients.

View more studies on this condition.

Organizations

National Organization for Rare Disorders (NORD)

Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

55 Kenosia Avenue
Danbury, CT 06810
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Mucolipidosis IV (ML4) Foundation

Funds, promotes, and supports research dedicated to improving diagnostic techniques, developing effective treatments, and ultimately, curing ML4, a genetic disorder of metabolism. Sponsors symposia and conferences for families and professionals.

719 East 17th Street
Brooklyn, NY 11230
Tel: 877-ML4-5459 (654-5459)

National MPS Society, Inc.

Dedicated to finding cures for mucopolysaccharidosis (MPS) and related diseases. Provides hope and support for affected individuals and their families by sponsoring research, advocacy, and awareness programs.

PO Box 14686
Durham, NC 27709-4686
Tel: 877-MPS-1001 919-806-0101
Fax: 919-806-2055

National Tay-Sachs and Allied Diseases Association

The mission of the National Tay-Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134

ISMRD-International Advocate For Glycoprotein Storage Diseases

ISMRD-International Advocate For Glycoprotein Storage Diseases advocates for families worldwide affected by Glycoprotein & Related Storage Diseases by building partnerships with medicine, science and industry and by providing a network of support and information.

20880 Canyon View Drive
Saratoga, CA 95070
Tel: 734-449-1190
Fax: 734-449-9038

Genetic Alliance

International coalition representing 600 consumer and professional organizations. Supports individuals and families with genetic conditions; educates the public; and advocates for consumer-informed public policies.

4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
Tel: 202-966-5557 800 336-GENE (4363)
Fax: 202-966-8553

National Society of Genetic Counselors

401 N. Michigan Avenue
Chicago, IL 60611
Tel: 312-321-6834
Fax: 312-673-6972

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