An abnormally elevated excretion of glycosaminoglycans is characteristic of mucopolysaccharidoses.
The thin-layer chromatography pattern obtained is usually characteristic of the enzyme deficiency. The sulfates that are present and the possible diagnosis are reported. However, abnormal results require confirmation by the appropriate enzyme assay.
When abnormal results are detected with characteristic patterns, a detailed interpretation is given, including an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and in vitro confirmatory studies (enzyme assay and molecular test).