Steinmann
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Stoffwechsel und Molekulare Pädiatrie, Abteilung für » Prof. Dr. Beat Steinmann (emeritiert) » Steinmann
Completed research project
| Title / Titel | GALACTOKINASE DEFICIENCY, A CAUSE OF PRESENILE CATARACT IN HETEROZYGOTES? | ||||
|---|---|---|---|---|---|
| Abstract (PDF, 14 KB) | |||||
| Summary / Zusammenfassung | Galactokinase deficiency is an inborn error of galactose metabolism resulting in cataracts in the first weeks (MIM 230200) of life. While the worldwide incidence of the disease is 1:1,000,000 or lower, it is much higher in Bulgaria (1:50,000) and 1:2000 among Roma (Gypsies). It has been suggested that carriers of the founder mutation (P28T) in the Roma population (carrier rate ca. 5%) are predisposed to presenile cataracts developing at age 20 to 50 years. The aim of this study is to confirm or refute this by a selective screening program in the Bulgarian Roma population. Weitere Informationen |
||||
| Publications / Publikationen | Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jor-danova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet 65:1299-1307, 1999Hunter M, Heyer E, Austerlitz F, Angelicheva D, Nedkova V, Briones P, Gata A, De Pablo R, Laszlo A, Bosshard N, Gitzelmann R, Tordai A, Kalmar L, Szalai C, Balogh I, Lupu C, Corches A, Popa G, Perez-Lezaun A, Kalaydjieva LV: The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr Res 51: 602-606, 2002Weitere Informationen | ||||
| Keywords / Suchbegriffe | Galactokinase deficiency, presenile cataract | ||||
| Project leadership and contacts / Projektleitung und Kontakte |
|
||||
| Funding source(s) / Unterstützt durch |
Universität Zürich (position pursuing an academic career), Forschungskredit der Universität Zürich |
||||
| In collaboration with / In Zusammenarbeit mit |
|
||||
| Duration of Project / Projektdauer | Jan 2001 to Aug 2008 |