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Fucosidosis: Severe phenotype with survival to adult age

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Abstract

A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2. Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of α-fucosidase. 4. Survival to adult age (20 years). The deficiency of α-fucosidase was demonstrated in liver, tears, urine sediment, and cultured fibroblasts. We conclude that severe deficiency or complete absence of α-fucosidase does not by itself preclude survival to adult age.

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Authors and Affiliations

  1. Department of Pediatrics, University of Bergen, 5016 Haukeland sykehus, Bergen, Norway

    O. Søvik & G. Fluge

  2. Pediatric Research Institute, University of Oslo, Oslo, Norway

    S. O. Lie

  3. Laboratoire de Chimie Physiologique, Université Catholique de Louvain, Belgium

    F. Van Hoof

Authors
  1. O. Søvik
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  2. S. O. Lie
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  3. G. Fluge
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  4. F. Van Hoof
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Søvik, O., Lie, S.O., Fluge, G. et al. Fucosidosis: Severe phenotype with survival to adult age. Eur J Pediatr 135, 211–216 (1980). https://doi.org/10.1007/BF00441644

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  • DOI: https://doi.org/10.1007/BF00441644

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