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Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease
Author(s) -
Ikonen Elina,
Peltonen Leena
Publication year - 1992
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380010503
Subject(s) - biology , mutation , lysosomal storage disease , disease , genetics , microbiology and biotechnology , medicine , gene , biochemistry , enzyme
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. © 1992 Wiley‐Liss, Inc.