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Origin of Finnish Mutations Causing Aspartylglucosaminuria

✍ Scribed by Sanna Valkonen; Marja Hietala; Marja-Liisa Savontaus; Pertii Aula


Book ID
114810134
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
377 KB
Volume
131
Category
Article
ISSN
0018-0661

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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 a

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Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We dev

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The AGA gene is mutated in patients with aspartylglucosaminuria (AGU), a lysosomal storage disease enriched in the Finnish population. The disease mechanism of AGU and the biochemistry and cell biology of the lysosomal aspartylglucosaminidase (AGA) enzyme are well characterized. Here, we have invest