ArticleJIMD reports2015
Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.
Article in JIMD reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 43 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Newborn screening for galactosaemia.The Cochrane database of systematic reviews · 2020Pooled it
- Newborn screening for galactosaemia.The Cochrane database of systematic reviews · 2017Pooled it
- Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial.Orphanet journal of rare diseases · 2025Trial
- Concurrent hearing and genetic screening in a general newborn population.Human genetics · 2020Trial
- Transcriptomic profiling of the ovarian immune landscape reveals distinct macrophage subsets and activation of the NLRP3 inflammasome likely contributing to accelerated follicular atresia in classic galactosemia.Cell communication and signaling : CCS · 2026Article
- Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.Journal of inherited metabolic disease · 2025Article
- Health and well-being of maturing adults with classic galactosemia.Journal of inherited metabolic disease · 2025Article
- Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia.Clinical and translational medicine · 2024Article
- Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.Molecular genetics and metabolism reports · 2024Article
- Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels.ACS omega · 2024Article
- Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program.Acta medica Philippina · 2024Article
- Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.International journal of neonatal screening · 2023Article
- Long-term complications in classic galactosemia are not progressive.Molecular genetics and metabolism · 2023Article
- Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time.Journal of patient-reported outcomes · 2023Article
- Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.Molecular genetics and metabolism · 2023Article
- The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.JIMD reports · 2023Article
- Gut dysmotility in children with neurological impairment: the nutritional management.Frontiers in neurology · 2023Review
- The Importance of Neonatal Screening for Galactosemia.Nutrients · 2022Review
- Co-Occurring Atypical Galactosemia and Wilson Disease.Molecular syndromology · 2022Article
- A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.Journal of inherited metabolic disease · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
Abstract
It has been 50 years since the first newborn screening (NBS) test for galactosemia was conducted in Oregon, and almost 10 years since the last US state added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening for galactosemia is a success story, but not yet a story with a completely happy ending. NBS, follow-up testing, and intervention for galactosemia continue to present challenges that highlight gaps in our knowledge. Here we compare galactosemia screening and follow-up data from 39 NBS programs gathered from the states directly or from public sources. On some matters the programs agreed: for example, those providing relevant data all identify classic galactosemia in close to 1/50,000 newborns and recommend immediate and lifelong dietary restriction of galactose for those infants. On other matters the programs disagree. For example, Duarte galactosemia (DG) detection rates vary dramatically among states, largely reflecting differences in screening approach. For infants diagnosed with DG, >80% of the programs surveyed recommend complete or partial dietary galactose restriction for the first year of life, or give mixed recommendations; <20% recommend no intervention. This disparity presents an ongoing dilemma for families and healthcare providers that could and should be resolved.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.