Summary
The results of 10 years experience in urinary screening for disorders of heteroglycan metabolism are presented. Over 5,000 urines were analysed of which 216 were positive for excess mucopolysacchariduria. The enzymatic diagnosis was achieved in 159 mucopolysaccharidoses of which Type III Sanfilippo was the commonest (86 cases), followed by Type II Hunter (31 cases) and Type I Hurler (21 cases). A total of 27 urines were positive for excess oligosacchariduria, the enzymatic diagnosis being established in 20 cases. The most frequently encountered oligosaccharidosis was GM1 gangliosidosis (10 cases), followed by mannosidosis (5 cases). No cases of fucosidosis were found.
Similar content being viewed by others
Abbreviations
- GAG:
-
Glycosaminoglycans
- HPLC:
-
High performance liquid chromatography
- MPS:
-
Mucopolysaccharidosis
References
Aula P, Autio S, Raivo KO, Rapola J (1982) Salla disease. In: Durand P, O'Brien JS (eds) Genetic errors of glycoprotein metabolism. Edi-Ermes, Milan, pp 185–190
Berry HK, Spinanger J (1960) A paper spot test useful in the study of Hurler's syndrome. J Lab Clin Med 55:136–138
Broadhead DM, Kirk JM, Burt AJ, Gupta V, Ellis PM, Besley GTN (1986) Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation. Clin Genet 30:392–398
Cantz M, Kresse H, Barton RW, Neufeld EF (1972) Corrective factors for inborn errors of mucopolysaccharide metabolism. Methods Enzymol 28:884–897
DiFerrante N (1967) The measurement of urinary mucopolysaccharides. Analyt Biochem 21:98–106
Dorfman A, Lorincz AE (1957) Occurrence of urinary acid mucopolysaccharides in the Hurler syndrome. Proc Natl Acad Sci 43:443–447
Durand P, Gatti R, Borrone C (1982) Fucosidosis. In: Durand P, O'Brien JS (eds) Genetic errors of glycoprotein metabolism. Edi-Ermes, Milan, pp 49–87
Gehler J (1981) Phänotyp bei Heteroglykanosen und Sphingolipidosen. Monatsschr Kinderheilkd 129:610–620
Gehler J, Cantz M, Tolksdorf M, Spranger J, Gilbert E, Drube H (1974) Mucopolysaccharidosis VII: β-glucuronidase deficiency. Humangenetik 23:149–158
Hopwood JJ, Muller V, Harrison JR, Carey WF, Elliott H, Robertson EF, Pollard AC (1982) Enzymatic diagnosis of the mucopolysaccharidoses. Experience of 96 cases diagnosed in a five-year period. Med J Austral 1:257–260
Humbel R, Collart M (1975) Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography. Clin Chim Acta 60:143–145
Kresse H, Cantz M, von Figura K, Glössl J, Paschke E (1981) The mucopolysaccharidoses: biochemistry and clinical symptoms. Klin Wochenschr 59:867–876
Lundblad A, Masson PK, Norden NE, Svensson S, Öckerman P-A, Palo J (1976) Structural determination of three glycoasparagines isolated from the urine of a patient with aspartylglycosaminuria. Eur J Biochem 67:209–214
Lundblad A, Lundsten J, Norden NE, Sjoblad S, Svensson S, Öckerman P-A, Gehlhoff M (1978) Urinary abnormalities in fucosidosis. Characterization of a disaccharide and two glycoasparagines. Eur J Biochem 83:513–521
O'Brien JS (1980) Molecular genetics of GM1 gangliosidosis. Clin Genet 8:303–313
Panin G, Naia S, Dall'Amico R, Chiandetti L, Zachello F, Catassi C, Felici L, Coppa GV (1986) Simple spectrophotometric quantification of urinary excretion of glycosaminoglycan sulfates. Clin Chem 32:2073–2076
Pennock CA (1976) A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. J Clin Pathol 29:111–123
Sewell AC (1979) An improved thin-layer chromatographic method for urinary oligosaccharide screening. Clin Chim Acta 92:411–414
Sewell AC (1986) Urinary oligosaccharide screening detects type VIa glycogen storage disease. Clin Chem 32:392
Sewell AC, Gehler J, Spranger J (1979) Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism. Klin Wochenschr 57:581–584
Sewell AC, Gehler J, Mittermaier G, Meyer E (1981) Mucopolysaccharidosis type VII (β-glucuronidase deficiency): a report of a new case and a survey of those in the literature. Clin Genet 21:366–373
Spranger J (1976) Biochemical definition of the mucopolysaccharidoses. Z Kinderheilkd 108:17–31
Spranger J (1978) Komplexe Kohlenhydrate: Heteroglykanosen. In: Bachmann KD, Ewerbeck H, Joppich G, Kleihauer E, Rossi E, Stalder GR (eds) Pädiatrie in Praxis und Klinik. Fischer and Thieme, Stuttgart, pp 340–348
Strecker G, Peers M-C, Michalski J-C (1977) Structure of nine sialyloligosaccharides in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. Eur J Biochem 75:391–403
Strecker G, Herlant-Peers M-C, Fournet B, Montreuil J, Dorland L, Haverkamp J, Vliegenthart JFG, Farriaux J-P (1977) Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis variant 0). Eur J Biochem 81:165–171
Teller WM, Burke EC, Rosevear JW, McKenzie BF (1962) Urinary excretion of acidic mucopolysaccharides in normal children and in patients with gargoylism. J Lab Clin Med 59:95–101
Walker V, Smythe PJ, Cook NJ, Ball NA, Veall RM, Whiteman P (1983) Urinary screening for abnormalities of aminoacid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex. J Ment Def Res 27:105–114
Whiteman P (1973) The quantitative measurement of alcian blue-glycosaminoglycan complexes. Biochem J 131:343–350
Yamashita K, Tachibana Y, Mihara K, Okada S, Yabuuchi H, Kobata A (1980) Urinary oligosaccharides of mannosidosis. J Biol Chem 255:5126–5133
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sewell, A.C. Urinary screening for disorders of heteroglycan metabolism. Klin Wochenschr 66, 48–53 (1988). https://doi.org/10.1007/BF01713010
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01713010