S Mucopolysaccharide Turnover

Norm of S Mucopolysaccharide Turnover

Normal 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.

  1. Obtain a 4-mm punch biopsy instrument, sterile gauze, tape, and a sterile plastic container.



  1. Obtain a skin biopsy using a 4-mm punch biopsy instrument.
  2. Place the specimen in the sterile plastic container.


Postprocedure Care

  1. Transport the specimen to the laboratory immediately.


Client and Family Teaching

  1. Genetic counseling is necessary for clients and families undergoing genetic testing.


Factors That Affect Results

  1. An inadequate amount of biopsy tissue can cause false-negative results.


Other Data

  1. The mucopolysaccharidoses, besides involving diseases of connective and vascular tissues, also secrete substantial amounts of chondroitin-6-sulfate, heparin sulfate, and keratin sulfate.