Hyperglycopeptiduria in Genetic Mucolipidoses

Abstract

Urinary cetylpyridinium chloride (CPC)-precipitates and non-CPC-precipitates in normal male children and seven patients with a new type of mucolipidosis, GM1-gangliosidosis type 1, I-cell disease, Hurler syndrome, Morquio syndrome, Gaucher's disease adult type and Tay-Sachs disease were studied using several methods including Sephadex G-25 gel filtration, ECTEOLA-cellulose column chromatography and enzymatic digestion with chondroitinase ABC. 1) Considerable amounts of glycopeptide fractions were detected in the urine of the patients with a new type of mucolipidosis, Gm, -gangliosidosis type 1, I-cell disease and also Gaucher's disease adult type compared with that of normal male children and other patients. 2) The total acid mucopolysaccharides excreted into the urine from two patients with Hurler syndrome and Morquio syndrome were much higher than those excreted in normal male children and other patients. 3) Large amounts of the chondroitinase ABC-resistant acid mucopolysaccharides were found in the urine of patients with Hurler syndrome, Morquio syndrome and GM1-gangliosidosis type 1.