| Literature DB >> 8357013 |
L T Wong1, H Vallance, A Savage, A G Davidson, D Applegarth.
Abstract
Human alpha-mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly. Deficiency of the enzyme leads to accumulation of mannose-rich glycoconjugates in tissues. Zinc sulphate has been shown to stimulate alpha-mannosidase activity in vitro. Oral zinc therapy was attempted on a 4-year-old boy with alpha-mannosidosis for 3 years. After almost 10 years of follow-up on and off zinc therapy, we must conclude that oral zinc does not substantially affect the clinical course of alpha-mannosidosis.Entities:
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Year: 1993 PMID: 8357013 DOI: 10.1002/ajmg.1320460413
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299