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Metabolic Glycoengineering of Sialic Acid Using N-acyl-modified Mannosamines
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[Beta mannosidosis: a new case]

E Gourrier1, M P Thomas, A Munnich

  • 1Service de néonatologie et réanimation, hôpital René-Dubos, Pontoise, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|February 1, 1997
PubMed

Insights

Beta mannosidase deficiency is a rare genetic disorder. This case highlights swallowing and esophageal motility issues in a patient with beta mannosidosis, leading to recurrent infections.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Beta mannosidase deficiency is an extremely rare lysosomal storage disorder.
  • Only 11 cases have been previously reported in medical literature.
  • This report details a new case, expanding the known clinical spectrum.
Abstract

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