A Reliable Spot Test for Mucopolysaccharidoses

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Abstract
A new spot test for detecting excessive excretion of mucopolysaccharides in urine has been used with a group of 17 patients. Reliability of the test was evaluated by correlating clinical findings with qualitative and quantitative analyses of urinary mucopolysaccharides. Normal controls, with 3.8 to 10.0 mg of uronic acid in this form per liter of urine, gave negative spot tests; all cases of clinically diagnosed mucopolysaccharidoses (MPS) I, II, and III (Hurler’s, Hunter’s, and Sanfilippo’s syndromes, respectively) gave strongly positive ones. Two patients (female siblings) with Morquio’s syndrome (MPS IV) also gave positive spot tests, which were somewhat less intense than those given by patients with MPS I, II, or III. The test for Morquio’s syndrome, positive with fresh urine, was essentially negative with samples at -26°C for three months or longer. A group of seven patients having various degrees of skeletal deformities, mental retardation, dwarfism, or corneal opacities, but not fitting the presently accepted classification of mucopolysaccharidoses, gave negative spot tests, and chemical analyses of their urinary mucopolysaccharides showed normal patterns of excretion.

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