DEFINITION
Mukopolisakaridosis is a group of inherited disorders in
which the complex sugar molecules can not be solved as it should and accumulate
in dangerous amounts in tissues.
CAUSE
Complex sugar molecules, called mucopolysaccharides, are an
important part of many tissues of the body. At mukopolisakaridosis, the body
lacks the enzyme needed to break and save mucopolysaccharides. As a result,
excessive mucopolysaccharides into the body and stored in abnormal places
throughout the body.
SYMPTOMS
Various signs and symptoms of mukopolisakaridosis:
·
Currently, infancy and childhood, it seems clear
the abnormal development, short stature, and hairy
·
Accumulation of metabolites in body tissues
causing abnormalities in the bone and a distinctive facial appearance. It also
can occur disorders of the eye, liver, spleen, and sometimes intellectual
impairment
·
Impaired vision or hearing
·
Disorders of the arteries or heart valve
·
Stiffness of the joints of the fingers
DIAGNOSIS
Diagnosis is usually based on symptoms and physical
examination there. History mukopolisakaridosis family members also help direct
diagnosis. Examination of urine can help, but sometimes give inaccurate
results. Examination of x-rays may show abnormalities in the bones. Mukopolisakaridosis
also can be diagnosed before birth by using amniocentesis or chorionic villi
sample checks.
TREATMENT
At mukopolisakaridosis certain type of abnormal enzyme
replacement therapy provides little success and temporary. Bone marrow
transplantation may help some patients. However, patients often experience a
disability or death, and the therapy is still kontraoversial.
REFERENCE
- Lee M Sanders. Disorders of Carbohydrate Metabolism. Merck
Manual. 2009.
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