European Journal of Pediatrics

, Volume 147, Issue 6, pp 634–638 | Cite as

Multiple sulfatase deficiency with a novel biochemical presentation

  • G. Constantopoulos
Case Reports

Abstract

Deficient activities of cerebroside-sulfatase, N-Acetylgalactosamine-4-sulfatase and iduronide 2-sulfatase in the lymphocytes of a patient suspected of metachromatic leukodystrophy, established the diagnosis of multiple sulfatase deficiency (MSD). Cultured skin fibroblasts (of early passage) from the patient had normal levels of activity for the three sulfatases. One week after the first examination, the activities of the three sulfatases in the fibroblasts of the patient declined and within a month were 4%–29% of normal. Total urinary glycosaminoglycans were within normal range. However, further examination showed an increase in the concentration of heparan sulfate, which comprised more than 50% of the total, compared with less than 20% in normal controls. Urinary sulfatides, cholesterol esters, cholesterol, and triglycerides were increased. The results from the study of this unique case of MSD suggest that time-dependent changes affect the activities of sulfatases in MSD. These results also demonstrate the necessity of assaying the sulfatases in both lymphocytes and fibroblasts from suspected cases of MSD.

Key words

Multiple sulfatase deficiency Sulfatases Glycosaminoglycans Metachromatic leukodystrophy 

Abbreviations

MSD

multiple sulfatase deficiency

MLD

metachromatic leukodystrophy

MPS

mucopolysaccharidosis

GAGs

glycosaminoglycans

CPC

cetylpyridinium chloride

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • G. Constantopoulos
    • 1
  1. 1.Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Disorders and StrokeNational Institutes of HealthBethesda

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