European Journal of Pediatrics

, Volume 126, Issue 3, pp 155–161 | Cite as

Beta-glucuronidase deficiency in a girl with unusual clinical features

  • R. A. Pfeiffer
  • H. Kresse
  • N. Bäumer
  • E. Sattinger
Article

Abstract

β-glucuronidase deficiency in fibroblasts, leucocytes and in serum and increased urinary excretion of mucopolysaccharides were found in a girl, now 13 years old, who exhibits some features of a mucopolysaccharidosis such as moderate mental deficiency, craniofacial dysmorphism, a short neck, protruding sternum, vertebral deformities and corneal clouding. Coarse granulations were found in her leucocytes. The liver and spleen are not enlarged and there is no gingival hyperplasia. Additional features, hitherto undescribed, are hydronephrosis and defective ossification of the medial carpal and tarsal bones. Low enzyme activity in the parents and a normal brother suggests heterozygosity.

Key words

Mucopolysaccharidosis Beta-glucuronidase deficiency 

Zusammenfassung

β-Glukuronidasemangel wurde in Fibroblasten, Leukozyten und im Serum eines 13jährigen Mädchens mit einigen Merkmalen der Mukopolysaccharidosen (Debilität, kraniofaziale Dysmorphie, kurzer Hals, vorspringendes Sternum, Dysplasie der Wirbelkörper und Hornhauttrübung) nachgewiesen. In Leukozyten fanden sich grobe Granula. Leber und Milz waren nicht vergrößert, eine Gingivahyperplasie bestand nicht. Außerdem wurden eine Hydronephrose und Ossifikationsstörungen der medialen Handund Fußwurzelknochen festgestellt. Im Urin wurden Mukopolysaccharide vermehrt ausgeschieden. Die verminderte Enzymaktivität im Serum beider Eltern und des Bruders weisen auf Heterozygotie hin.

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Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • R. A. Pfeiffer
    • 1
  • H. Kresse
    • 2
  • N. Bäumer
    • 3
  • E. Sattinger
    • 1
  1. 1.Abteilung für Humangenetik der Medizinischen Hochschule LübeckLübeckFederal Republic of Germany
  2. 2.Medizinisch-Chemisches Institut und Pregl-Laboratorium der Universität Graz der Universität GrazGrazAustria
  3. 3.Facharzt für KinderheilkundeDortmundFederal Republic of Germany

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