Clinical manifestations of mannosidosis-A longitudinal study

Jorge J. Yunis, Raymond C. Lewandowski, Sylvester J. Sanfilippo, Michael Y. Tsai, Iancu Foni, Heinz H. Bruhl

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Mannosidosis is a partially defined disorder of glycoprotein metabolism; less than 20 cases have been reported in the literature. In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of this unusual storage disease. The data on our patients and those in the literature indicate that people with mannosidosis appear normal at birth and that their typical phenotype develops by two years of age. This is characterized by a distinctive coarse facies and dysostosis multiplex. Although recurrent Infections, hearing loss and mental retardation occur, the course in this storage disorder generally is stable and is compatible with adult life. The diagnosis is confirmed by the presence of a deficiency in α-D-mannosidase activity in leukocytes or fibroblasts, by the presence of vacuolated lymphocytes in peripheral blood and foam cells in bone marrow, and an increased excretion of mannose-rich oligosaccharides in urine.

Original languageEnglish (US)
Pages (from-to)841-848
Number of pages8
JournalThe American Journal of Medicine
Volume61
Issue number6
DOIs
StatePublished - Dec 1976

Fingerprint

Dive into the research topics of 'Clinical manifestations of mannosidosis-A longitudinal study'. Together they form a unique fingerprint.

Cite this