Journal of Inherited Metabolic Disease

, Volume 13, Issue 6, pp 867–872

β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

  • W. J. Kleijer
  • P. Hu
  • R. Thoomes
  • M. Boer
  • J. G. M. Huijmans
  • W. Blom
  • O. P. Van Diggelen
  • E. Seemanova
  • M. Macek
Article

DOI: 10.1007/BF01800211

Cite this article as:
Kleijer, W.J., Hu, P., Thoomes, R. et al. J Inherit Metab Dis (1990) 13: 867. doi:10.1007/BF01800211
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Summary

β-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms the autosomal recessive inheritance of β-mannosidosis. Further investigation of this gipsy family revealed β-mannosidosis in an older brother with a milder manifestation of gargoyl facial dysmorphology, mental retardation, hearing impairment and recurrent infections. β-Mannosidase activity was completely deficient in his cultured skin fibroblasts, leukocytes and plasma. In urine a characteristic disaccharide was present. Heterozygote levels of β-mannosidase were found in fibroblasts and/or plasma of the parents and one sister.

Copyright information

© SSIEM and Kluwer Academic Publishers 1990

Authors and Affiliations

  • W. J. Kleijer
    • 1
  • P. Hu
    • 1
  • R. Thoomes
    • 1
  • M. Boer
    • 1
  • J. G. M. Huijmans
    • 2
  • W. Blom
    • 2
  • O. P. Van Diggelen
    • 1
  • E. Seemanova
    • 3
  • M. Macek
    • 3
  1. 1.Department of Clinical GeneticsUniversity Hospital, Erasmus UniversityRotterdamThe Netherlands
  2. 2.Department of PaediatricsSophia Children's Hospital, Erasmus UniversityRotterdamThe Netherlands
  3. 3.Research Institute of Child Development, Department of Medical GeneticsCharles UniversityPragueCzechoslovakia