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Mucopolysaccharidosis VII: β-Glucuronidase deficiency

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Summary

An 18-month-old female showed a markedly decreased activity of the lysosomal enzyme β-D-glucuronidase in cultured fibroblasts, leucocytes, and serum. In obligate heterozygotes, the serum and leucocyte β-D-glucuronidase activity was decreased to approximately 50% of the control values. Clinically, the patient had a mild facial dysmorphism reminiscent of Hurler disease, moderate mental retardation, and hepatosplenomegaly. The corneae were clear. Peripheral granulocytes contained abundant, coarse Alder-Reilly granulations. The urinary excretion of acid mucopolysaccharides was increased. The disorder has been classified as mucopolysaccharidosis, type VII. It is assumed that this new mucopolysaccharidosis is caused by the defective action of β-glucuronidase which results in the faulty degradation and intralysosomal storage of acid mucopolysaccharides.

Zusammenfassung

Bei einem 18 Monate alten Mädchen war die Aktivität des lysosomalen Enzyms β-D-Glucuronidase in gezüchteten Fibroblasten, Leukocyten und im Blutserum erheblich vermindert. Obligat heterozygote Anlageträger hatten in Serum und Leukocyten eine auf ca. 50% der Norm herabgesetzte Enzym-Aktivität. Klinisch fiel die Patientin durch Hurler-ähnliche Gesichtszüge auf, durch eine mäßige geistige Retardierung und Hepatosplenomegalie. Die Hornhäute waren spaltlampenmikroskopisch klar. Granulocyten des periphernen Blutbildes zeigten eine dichte Speicherung grober Alder-Reillyscher Einschlüsse. Im Urin wurden vermehrt saure Mucopolysaccharide ausgeschieden. Es handelte sich um eine Mucopolysaccharidose Typ VII. Das Krankheitsbild wird durch eine ungenügende Aktivität der β-D-Glucuronidase hervorgerufen. Saure Mucopolysaccharide können nicht abgebaut werden und häufen sich intralysosomal an.

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Supported by grants of the Deutsche Forschungsgemeinschaft.

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Gehler, J., Cantz, M., Tolksdorf, M. et al. Mucopolysaccharidosis VII: β-Glucuronidase deficiency. Hum Genet 23, 149–158 (1974). https://doi.org/10.1007/BF00282212

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Keywords

  • Mental Retardation
  • Urinary Excretion
  • Lysosomal Enzyme
  • Mucopolysaccharide
  • Facial Dysmorphism