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Screening for lysosomal disorders

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Abstract

Patients at any age who develop regression of learned skills, onset of dementia, loss of motor control and organ enlargement should be considered for lysosomal screening. Morphological and biochemical screening methods may reinforce the clinical suspicion, but they are not diagnostic. A widespread use of enzyme assays that appear to be related to the clinical problems is recommented.

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Abbreviations

MPS :

mucopolysaccharidosis

MLD :

metachromatic leucodystrophy

GAG :

glycosaminoglycan

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  1. Department of Pediatrics, University of Münster, Albert-Schweitzer-Strasse 33, D-48149, Münster, Germany

    K. Ullrich

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Ullrich, K. Screening for lysosomal disorders. Eur J Pediatr 153 (Suppl 1), S38–S43 (1994). https://doi.org/10.1007/BF02138776

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