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[Alpha-mannosidosis]

D Malm1, O K Tollersrud, L Tranebjaerg

  • 1Medisinsk avdeling Regionsykehuset i Tromsø.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|February 20, 1995
PubMed
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Alpha-mannosidosis is a rare genetic disorder affecting lysosomes. Early diagnosis and management are crucial for patients, despite the absence of a causal therapy.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder.
  • This condition results from deficient alpha-mannosidase enzyme activity.

Observation:

  • Three cases of alpha-mannosidosis diagnosed in Tromsø between 1983-1987 are presented.
  • Patients exhibit characteristic facial features, intellectual disability, skeletal abnormalities (dysostosis multiplex), recurrent infections, hearing loss, and speech delay.

Findings:

  • The disease progression is slow in the first decade but shows clinical variability.
  • Vacuolized lymphocytes are common, but diagnosis relies on measuring alpha-mannosidase activity.
  • Prenatal diagnosis is feasible via chorionic villus sampling.

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Implications:

  • Accurate diagnosis is essential for genetic counseling and prenatal diagnosis.
  • Management focuses on preventing complications, addressing hearing loss, and providing supportive therapies like speech and special education.
  • Increased awareness of alpha-mannosidosis is vital for timely intervention.