title: Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
abstract: 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.
authors.affiliation: Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
authors.forename: E
authors.initials: E
authors.lastname: Ikonen
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000595:Amino Acid Sequence; D054880:Aspartylglucosaminuria; D001227:Aspartylglucosylaminase / Q000737:chemistry / Q000235:genetics; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005387:Finland; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D015394:Molecular Structure; D010641:Phenotype
chemical_list: C000009:N-acetylglucosaminylasparagine; D004247:DNA; D001227:Aspartylglucosylaminase; D000117:Acetylglucosamine