title: Aspartylglucosaminuria among Palestinian Arabs.
abstract: Aspartylglucosaminuria (AGU) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase (AGA). AGU is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect. While very few patients with AGU have been reported from non-Finnish origin, we diagnosed the disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem. The clinical diagnosis of AGU is often difficult, in particular early in the course of the disease, and most of the patients are diagnosed after the age of 5 years. However, since these patients excrete early large amounts of aspartylglucosamine in urine, biochemical screening is easy by urine chromatography.
authors.affiliation: Rosa and David Orzen Human Genetic Clinic, Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Zlotogora
authors.forename: Z
authors.initials: Z
authors.lastname: Ben-Neriah
authors.forename: B Y
authors.initials: BY
authors.lastname: Abu-Libdeh
authors.forename: V
authors.initials: V
authors.lastname: Sury
authors.forename: M
authors.initials: M
authors.lastname: Zeigler
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D054880:Aspartylglucosaminuria; D001227:Aspartylglucosylaminase / Q000235:genetics; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007557:Israel; D007962:Leukocytes / Q000201:enzymology; D012529:Saudi Arabia / Q000208:ethnology
chemical_list: C000009:N-acetylglucosaminylasparagine; D001227:Aspartylglucosylaminase; D000117:Acetylglucosamine