Method for the detection of mucopolysaccharide storage diseases

A method for the screening of mucopolysaccharide storage diseases in a human patient consisting essentially of:

• (a) extracting a sample of the patient's urine which has been absorbed onto a porous sheet and dried, by agitating said sheet with water for a period of time sufficient to yield an aqueous extract which contains glycosaminoglycan and creatinine;
• (b) determining the amount of creatinine in a first portion of said aqueous extract, said amount of creatinine being normalized to standard creatinine reference solutions;
• (c) adding a known amount of 1,9-dimethylmethylene blue chloride dye reagent to a second portion of said aqueous extract without prior separation of urine constituents from said extract to produce a test solution, said test solution having sufficient buffer to stabilize glycosaminoglycan-dye complexes in solution without precipitation;
• (d) determining the amount of glycosaminoglycan in said test solution by inspection of color change in said test solution, said amount of glycosaminoglycan being normalized to a standard glycosaminoglycan solution;
• (e) calculating urinary glycosaminoglycan in said sample as a ratio of normalized glycosaminoglycan to normalized creatinine;
• and
• (f) comparing the urinary glycosaminoglycan in said sample to control levels of urinary glycosaminoglycan.