Clinical Manifestations and Results of Laboratory Examinations in Four Patients with Alpha-Mannosidosis
Authors:
M. Magner 1*; M. Buganová 1*; B. Asfaw 2; H. Poupětová 2; J. Ledvinová 2; O. Brantová 1; H. M. Stesland 3; J. Zeman 1,2
Authors‘ workplace:
Klinika dětského a dorostového lékařství VFN a UK 1. LF, Praha
1; Ústav dědičných poruch metabolismu VFN a UK 1. LF, Praha
2; Department of Medical Genetics, University Hospital of North Norway, Tromso, Norway
3
Published in:
Čes-slov Pediat 2008; 63 (12): 677-682.
Category:
Original Papers
Overview
Alpha-mannosidosis is a slow progressive lysosomal storage disease resulting from the deficiency of lysosomal alpha-mannosidase. The aims of the study were to describe the clinical course of the disease and the results of biochemical and molecular analyses in all four Czech patients with alpha-mannosidosis.
First symptoms of the disease manifested within the first year of life and included psychomotor retardation, repeated respiratory and skin infections, hearing loss and speech problems, progressive development of skeletal changes with coarse facial features, sternum protrusion and scoliosis. The further neurological impairment with the pyramidal and extrapyramidal symptomatology developed since the second year of life.
The activity of alpha-mannosidase was profoundly decreased in isolated leukocytes and all patients are in the gene for alpha-mannosidase homozygous for the mutation p.R750W. The mild hypogamaglobulinaemia was present in all patients.
Conclusion:
Better understanding of the natural course of alpha mannosidosis in childhood will help to identify affected children earlier in the course of the disease. It is important not only for the genetic counseling and prenatal diagnostics in affected families but also for the successful use of new therapeutic approaches including enzyme replacement therapy.
Key words:
alpha-mannosidosis, psychomotor delay, lysosomal storage disease
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2008 Issue 12
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