Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Beta-mannosidosis

Orpha number ORPHA118
Synonym(s) Beta-mannosidase deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
Childhood
ICD-10
  • E77.1
ICD-O -
OMIM
UMLS
  • C0342849
MeSH
  • D044905
MedDRA -

Summary

Beta-mannosidosis is a rare lysosomal disorder that belongs to the group of oligosaccharidoses. It is characterized by the intracellular accumulation of a disaccharide due to the deficient activity of lysosomal beta-mannosidase. Identified in animals, it has only recently been recognized in human beings. So far only a dozen cases of this autosomal recessive disorder have been described, and it is still difficult to attribute symptoms to the disease. Although they are heterogeneous, clinical signs seem to be less severe than in animals, and include intellectual deficit, hearing loss, sometimes neurological symptoms such as hypotonia and convulsions, dysmorphic features, and repeated respiratory infections. Diagnosis can be established by assaying beta-mannosidase activity in peripheral blood leucocytes, plasma, or cultured fibroblasts, and by demonstrating the abnormal presence of a disaccharide in urine samples. Prenatal diagnosis is available. Currently, there is no specific treatment for the disorder.

Expert reviewer(s)

  • Pr Thierry LEVADE

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.