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The genetic mucolipidoses

Diagnosis and differential diagnosis

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Summary

This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”.

In Gm1 gangliosidosis types I and II, Fucosidosis, Mannosidosis and in infantile Sulfatidosis with mucopolysacchariduria enzyme defects have been identified which are thought to be causally related to the diseases. In others the pathogenesis is unknown. They are tentatively named Mucolipidosis I, II and III.

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Authors and Affiliations

  1. Dept. of Pediatrics, University of Kiel, Kiel, Germany

    J. W. Spranger & H.-R. Wiedemann

  2. Dept. of Pediatrics, University of Wisconsin, 53706, Madison, Wisc., USA

    J. W. Spranger

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  1. J. W. Spranger
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  2. H.-R. Wiedemann
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Supported by grants Wi 80 and Sp 63/2 of the Deutsche Forschungsgemeinschaft.

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Spranger, J.W., Wiedemann, HR. The genetic mucolipidoses. Hum Genet 9, 113–139 (1970). https://doi.org/10.1007/BF00278928

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