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Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study

  • Metabolic Diseases
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Abstract

A 7-year-old boy had clinical features of metachromatic leucodystrophy (MLD), however, an increased urinary sulphatide excretion was found in the presence of normal arylsulphatase A (and α-galactosidase A) activity. A rectal biopsy showed metachromatically staining storage macrophages as well as nonmetachromatic, but PAS-positive, submucosal neurons filled with membranous cytoplasmic bodies. These two types of storage material led to testing for a sphingolipid activator protein (SAP) deficiency. Loading tests with sulphatide and globotriaosylceramide showed deficient turnover of both sphingolipids in cultured fibroblasts. Using the Ouchterlony method, there was no reactivity between a described anti-SAP 1 antiserum and the patient's fibroblast extracts. This new case of SAP-1 deficient MLD was compared with the four cases of this variant known from the literature. Our results indicate that rectal biopsy morphology and lipid loading biochemistry should prove useful for the screening of SAP defects.

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Abbreviations

ASA:

arylsulphatase A

MLD:

metachromatic leucodystrophy

SAP:

sphingolipid activator protein

THC:

trihexosylceramide

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Authors and Affiliations

  1. Neurologisches Institut, der Universität (Edinger-Institut), Deutschorden-Strasse 46, W-6000, Frankfurt am Main, Federal Republic of Germany

    W. Schlote

  2. Institut für Hirnforschung der Universität, Schwärzlocher Strasse 79, W-7400, Tübindgen, Federal Republic of Germany

    K. Harzer, B. Kustermann-Kuhn, B. Schmid & I. Schuster

  3. Laboratory of Neurochemistry and Molecular Biology, Oceanographic, Biochemical Society, 2 Lampsakou Street, GR-11528, Athens, Greece

    H. Christomanou

  4. Department of Chemical Pathology, Adelaide Children's Hospital, 5006, North Adelaide, South. Australia

    B. C. Paton

  5. Abteilug Pädiatrische Neurologie, Zentrum der Kinderheilkunde der Universität, Theoder-Stern-Kai 7, W-6000, Frankfurt am Main, Federal Republic of Germany

    J. Seeger & U. Beudt

  6. Institut für Humangenetik der Universität, Theodor-Stern-Kai 7, W-6000, Frankfurt am Main, Federal Republic of Germany

    U. Beudt & U. Langenbeck

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Schlote, W., Harzer, K., Christomanou, H. et al. Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study. Eur J Pediatr 150, 584–591 (1991). https://doi.org/10.1007/BF02072213

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  • DOI: https://doi.org/10.1007/BF02072213

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