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Biochemical definition of the mucopolysaccharidoses

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Abstract

The excretion pattern of urinary acid mucopolysaccharides was determined in 72 patients with different clinical types of mucopolysaccharidoses and mucolipidoses. Using a chromatographic fractionation method, characteristic excretion patterns were found in the six classical types of mucopolysaccharidoses. Patients with Hunter's disease excreted relatively more heparansulfate and less dermatansulfate than patients with Hurler's disease. In Sanfilippo's disease the excretion of heparansulfate only was increased. In Morquio's disease abnormal amounts of substances with characteristics of chondroitin-4(6)-sulfate were found in addition to keratansulfate. In one patient with Ullrich-Scheie's disease and six patients with Maroteaux's disease relatively large amounts of substances with characteristics of dermatansulfate were present. There was very little overlap between the excretion patterns of different types of mucopolysaccharidoses. In the types of mucolipidoses investigated, the urinary excretion of acid mucopolysaccharides was normal. The intrafamilial variability in eight pairs of related children was small. Our data suggest that the excretion pattern of urinary acid mucopolysaccharides, as determined by the Dowex Column Chromatography Method, is a valuable aid in the definition of the mucopolysaccharidoses.

Zusammenfassung

Bei 71 Patienten mit verschiedenen Formen der Mucopolysaccharidosen und Mucolipidoses wurde das Ausscheidungsmuster saurer Mucopolysaccharide säulenchromatographisch bestimmt. Im Harn von Patienten mit Mb. Pfaundler-Hurler fand sich relativ mehr Dermatansulfat und weniger Heparansulfat als bei Patienten mit Mb. Hunter. Beim Mb. Sanfilippo war allein die Ausscheidung von Heparansulfat erhöht. Abnorme Mengen von Substanzen mit Charakteristika von Chondroitin-4(6)-sulfat und Keratansulfat fanden sich beim Mb. Morquio. Ein Patiet mit Mb. Ullrich-Scheie (sogenannter „Spät-Hurler”) und 6 Patienten mit Mb. Maroteaux hatten in ihrem Urin vorzugsweise Substanzen mit Charakteristika von Dermatansulfat. Die Ausscheidungsmuster der verschiedenen Biotypen überlappten kaum. Patienten mit verschiedenen Formen der Mucolipidosen hatten eine normale Ausscheidung saurer Mucopolysaccharide. Die intrafamiliäre Variabilität der Ausscheidungsmuster bei 8 Paaren verwandter Kinder war gering. Nach diesen Ergebnissen ist die sä lenchromatographische Bestimmung der sauren Mucopolysaccharide im Harn ein wertvolles Hilfsmittel zur Differentialdiagnose der Mucopolysaccharidosen und Mucolipidosen. Diese Differenzierung ist aus prognostischen, genetischen und pathogenetischen Gründen unerläßlich.

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Authors and Affiliations

  1. Department of Pediatrics, University of Kiel Medical School, Kiel, Germany

    J. W. Spranger

  2. Universitäts-Kinderklinik, Fröbelstraße 15-17, 2300, Kiel

    J. W. Spranger

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Supported by Grants No. WI 80 of the Deutsche Forschungsgemeinschaft.

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Spranger, J.W. Biochemical definition of the mucopolysaccharidoses. Z. Kinder-Heilk. 108, 17–31 (1970). https://doi.org/10.1007/BF00440562

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