کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3446738 1595492 2011 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening
چکیده انگلیسی

Background and AimsGalactokinase (GALK) deficiency is an autosomal recessive disorder causing cataract formation that can be prevented or mitigated by early diagnosis and galactose-restricted diet. The aim of this retrospective study was to explore whether GALK-deficiency meets the criteria for neonatal mass screening programs.MethodsFrom 2000 until 2010, the Screening Laboratory Hannover performed newborn screening in 1,950,927 infants from Germany for galactosemia by measuring galactose-1-phosphate-uridyl-transferase and total galactose concentration (free galactose plus galactose-1-phosphate), including automatic screening for GALK deficiency.ResultsEleven cases were found with elevated galactose levels accompanied by normal transferase activity. Nine of 11 cases were informative; the diagnosis was established by demonstrating deficient activity of the GALK enzyme in erythrocytes. To our knowledge, screening did not produce any false negative results. All patients were treated with a galactose-restricted diet from the neonatal period or infancy. Three of nine patients suffered from congenital cataracts or eventual development of cataracts, despite normal galactose concentrations in blood.ConclusionsNewborn screening for GALK deficiency prevents or at least mitigates cataract formation. As screening for GALK deficiency is technically simple, it seems to be reasonable to include this disorder in routine screening programs by simultaneous determination of transferase activity and quantification of galactose plus galactose-1-phosphate in dried blood spots.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Archives of Medical Research - Volume 42, Issue 7, October 2011, Pages 608–612
نویسندگان
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