Norm of S Mucopolysaccharide Turnover
Usage of S Mucopolysaccharide Turnover
Glucuronidase deficiency, Hurler's syndrome, Maroteaux-Lamy syndrome, mucopolysaccharidoses I-VII (except Morquio's syndrome), Sanfilippo's syndrome type A or B, and Scheie's syndrome.
Description of S Mucopolysaccharide Turnover
The mucopolysaccharidoses form a group of inherited disorders caused by the deficiency of enzymes required for the lysosomal degradation of glycosaminoglycans. Evaluation of the rate of turnover of 35S-labeled mucopolysaccharidoses in cultures of the skin assists in their diagnosis. Skin containing fibroblasts that lack an enzyme necessary for the breakdown of mucopolysaccharides will accumulate polysaccharides.
Professional Considerations of S Mucopolysaccharide Turnover
Consent form NOT required.
- Obtain a 4-mm punch biopsy instrument, sterile gauze, tape, and a sterile plastic container.
- Obtain a skin biopsy using a 4-mm punch biopsy instrument.
- Place the specimen in the sterile plastic container.
- Transport the specimen to the laboratory immediately.
Client and Family Teaching
- Genetic counseling is necessary for clients and families undergoing genetic testing.
Factors That Affect Results
- An inadequate amount of biopsy tissue can cause false-negative results.
- The mucopolysaccharidoses, besides involving diseases of connective and vascular tissues, also secrete substantial amounts of chondroitin-6-sulfate, heparin sulfate, and keratin sulfate.