ArticleThe Journal of molecular diagnostics : JMD2003
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia.
Article in The Journal of molecular diagnostics : JMD, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 39 citations in OpenAlex.
- Article
- [Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.]Revista espanola de salud publica · 2020Article
- Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.Medicina (Kaunas, Lithuania) · 2019Article
- Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.Turk pediatri arsivi · 2016Article
- Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.JIMD reports · 2015Article
- Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.Journal of perinatology : official journal of the California Perinatal Association · 2010Article
- Newborn blood spot screening: new opportunities, old problems.Journal of inherited metabolic disease · 2009Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Classical galactosemia is a genetic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. Prospective newborn screening for galactosemia is routine and utilizes the universally collected newborn dried blood specimen on filter paper. Screening for galactosemia is achieved through analysis of total galactose (galactose and galactose-1-phosphate) and/or determining the activity of the GALT enzyme. While this approach is effective, environmental factors and the high frequency of the Duarte D2 mutation (N314D) does lead to false positive results. Using DNA derived from the original newborn dried blood specimen and Light Cycler technology a panel of five assays able to detect the four most frequently encountered classical galactosemia alleles (Q188R, S135L, K285N, and L195P) and the N314D Duarte variant mutation are described. The five assays are performed simultaneously using common conditions. Including DNA preparation, set-up, amplification, and analysis the genotype data for all five loci is obtained in less than 2 hours. The assays are easily interpreted and amenable to high-throughput newborn screening. Mutational analysis is useful to reduce false positive results, differentiate D/G mixed heterozygotes from classical galactosemia, and to clearly identify a very high percentage of those affected by classical galactosemia.
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Registered trials
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