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Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease

โœ Scribed by Elina Ikonen; Leena Peltonen

Book ID
102258909
Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
466 KB
Volume
1
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

This article provides a review of the mutations reported so far in the lysosomal storage disease aspartylglucosaminuria ( AGU). The clinical symptoms, biochemical findings, and diagnostic possibilities of the disease are introduced. The prevalence and biological consequences of the found mutations are then described, as well as the availability of a new rapid DNA test suitable for carrier screening. This test will be especially applicable in the genetically isolated Finnish population, where the carrier frequency of AGU was found to be as high as 1:36. Finally, future prospects dealing with the foreseeable therapeutic interventions of the disease are discussed. o 1992 WiIey-Liss, Inc.

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