INFORMATION ON MUCOLIPIDOSES

Mucolipidoses are a group of inherited metabolic diseases that affect the body's ability to carry out the normal turnover of various materials within cells. These deficiencies result in bone and joint damage, and may cause severe complications in the organ systems of the body. In mucolipidoses, abnormal amounts of carbohydrates or fatty materials 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. Over time, many children with Mucolipidoses develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease

SYNONYMS OF MUCOLIPIDOSES

Synonyms and other related keywords:

1. Scheie syndrome
2. Cherry Red Spot Myoclonus Syndrome
3. Deficiency Disease
4. Ganglioside Sialidase
5. Psuedo-Hurler
6. Lipomucopolysaccharidosis
7. Glycosaminoglycans

CAUSES OF MUCOLIPIDOSES

Mucolipidoses 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. Lysosomes play a critical role in the metabolic function of our bodies. One of their primary roles is to pick up substances such as carbohydrates and lipids and break them down into smaller molecules so that they can be used again in the metabolic process. This process is possible because lysosomes contain enzymes, which are proteins that help the body's chemistry work better and faster. Working continuously, enzymes break down carbohydrates and lipids and assist in the transfer of their byproducts throughout the rest of the cell for the production of energy or excretion. Patients with Mucolipidoses 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.

SYMPTOMS OF MUCOLIPIDOSES

Early symptoms can include vision problems and developmental delays. Children with Mucolipidosis develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

DIAGNOSIS OF MUCOLIPIDOSES

Diagnosis of mucolipidoses is done on a complete medical history an certain medical tests as blood test that measures enzyme activity in the patient's white blood cells. Other diagnosis is through skin biopsy A small sample of skin is taken from the patient and grown in a cell culture. The activity of a particular enzyme in the cultured skin cells is then measured. Geneting testing in specialized laboratories can be done.

TREATMENT OF MUCOLIPIDOSES

There is no cure for Mucolipidoses 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. Care also should be taken to maintain the overall health of patients with Mucolipidoses. Respiratory infections should be treated immediately and fully with antibiotics. Children with language delays may benefit from speech therapy.