Recognition of the Mucopolysaccharidoses by Four Screening Tests, including a Refinement of the Albumin Turbidity Test, and Their Differentiation by Electrophoretic Separation of Urinary Glycosaminoglycans

Abstract

Urinary excretion of mucopolysaccharides by normal subjects and patients with a mucopolysaccharidosis has been assessed by four screening tests including two quantitative determinations. Inclusion of a urine blank has been shown to reduce the number of false positive results given by the bovine albumin turbidity test. An electrophoretic technique has been developed and applied to urine concentrates. It has proved useful in the differential diagnosis of the mucopolysaccharidoses since four types are distinguished by characteristic glycosaminoglycan band patterns and another glycosaminoglycan pattern characterises two further types.