{"doi":"10.1007/8904_2011_59","title":"Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience","abstract":null,"journal":"JIMD Reports","year":2011,"id":674603,"datarank":0.5456379239589579,"base_score":3.6375861597263857,"endowment":3.6375861597263857,"self_citation_contribution":0.5456379239589579,"citation_network_contribution":0.0,"self_endowment_contribution":0.5456379239589579,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":37,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1695547,"name":"Claes Guthenberg","orcid":null,"position":1,"is_corresponding":false},{"id":1762570,"name":"Ulrika von Döbeln","orcid":null,"position":2,"is_corresponding":false},{"id":1762568,"name":"Annika Ohlsson","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience","abstract":"Newborn screening was implemented in the 1960s with screening for phenylketonuria (PKU). In the same decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder, which is potentially life threatening if not treated. While newborn screening for PKU has become almost universal, galactosemia is included only in a minority of European newborn screening programs. The major arguments why galactosemia is excluded from newborn screening programs are that the disease can be diagnosed clinically, there is a high rate of false positives and long-term complications are common despite early diagnosis.Here, we report how we have decreased the number of false-positive galactosemia recalls to less than 0.01%, using a two-tier test strategy. All samples are tested with the Beutler blood spot test, a method that measures galactose-1-phosphate uridyltransferase activity. Samples with less than ≤15% activity are tested for galactose with a galactose dehydrogenase test (the rapid GAL-DH test), which catalyzes the oxidation of galactose and the reduction of NAD(+) to NADH that is estimated visually by fluorescence under UV-light. Both tests are semiquantitative.With this strategy, screening for galactosemia is inexpensive, does not demand a heavy workload, and has a low false-positive re-call rate. The incidence of classical galactosemia in Sweden is 1/100,000, which is lower than the reported incidence in other European countries. Despite this, newborn screening for galactosemia has never been questioned.               Concise sentence: Screening for galactosemia using well-established methods to reduce the false-positive rate.","is_dataset_classified":null,"base_score":3.6375861597263857,"endowment":3.6375861597263857,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"23430863","pmcid":"PMC3509849","openalex_id":"https://openalex.org/W1599056620","authors":[],"funders":[],"total_grants":0,"fwci":2.7991,"citation_percentile":0.89456869,"influential_citations":0,"citation_trend":[{"year":2014,"count":2},{"year":2015,"count":3},{"year":2016,"count":4},{"year":2017,"count":6},{"year":2018,"count":1},{"year":2019,"count":7},{"year":2020,"count":2},{"year":2021,"count":1},{"year":2022,"count":8},{"year":2023,"count":1},{"year":2024,"count":1},{"year":2026,"count":1}],"oa_status":"closed","license":null,"oa_locations":[{"url":"http://link.springer.com/content/pdf/10.1007/8904_2011_59","host_type":"publisher"},{"url":"https://doi.org/10.1007/8904_2011_59","host_type":"book series"},{"url":"https://pubmed.ncbi.nlm.nih.gov/23430863","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3509849","host_type":"repository"}],"fields_of_study":["Metabolism and Genetic Disorders","Hyperglycemia and glycemic control in critically ill and hospitalized patients","Neonatal Health and Biochemistry"],"mesh_terms":[],"keywords":["Galactosemia","Newborn screening","Medicine","Pediatrics","False positive paradox","Galactose","Internal medicine","Biochemistry","Chemistry"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-16T17:30:26.026511Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}