ReviewJournal of inherited metabolic disease2017
Sweet and sour: an update on classic galactosemia.
Review in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.
- Cognitive functioning in patients with classical galactosemia: a systematic review.Orphanet journal of rare diseases · 2019Pooled 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
- Trial
- Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.Frontiers in psychiatry · 2026Article
- Galactose mutarotase deficiency as the galactosemia type IV.Journal of human genetics · 2025Review
- Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document.Molecular genetics and metabolism reports · 2025Review
- Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.JIMD reports · 2025Article
- International Survey on Phenylketonuria Newborn Screening.International journal of neonatal screening · 2025Article
- Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.Clinical case reports · 2025Article
- Metabolic priming alters the morphology and metabolism of human dermal fibroblasts.EXCLI journal · 2025Article
- Comparative cardiomyocyte differentiation potential of rat adipose-derived mesenchymal stem cells from two anatomical sites: metabolomic profiling and pathway analysis.Frontiers in cell and developmental biology · 2025Article
- 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
- Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.Medicina (Kaunas, Lithuania) · 2023Article
- Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.Molecular genetics and metabolism · 2023Article
- Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.Journal of clinical medicine · 2023Article
- The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.JIMD reports · 2023Article
- Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.Nutrients · 2023Article
- Ataxia in Neurometabolic Disorders.Metabolites · 2022Review
- The Importance of Neonatal Screening for Galactosemia.Nutrients · 2022Review
- Determination of the lactose and galactose content of common foods: Relevance to galactosemia.Food science & nutrition · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives. After its first description in 1908 and despite intense research in the past century, the exact pathogenic mechanisms underlying galactosemia are still not fully understood. Recently, new important insights on molecular and cellular aspects of galactosemia have been gained, and should open new avenues for the development of novel therapeutic strategies. Moreover, an international galactosemia network has been established, which shall act as a platform for expertise and research in galactosemia. Herein are reviewed some of the latest developments in clinical practice and research findings on classic galactosemia, an enigmatic disorder with many unanswered questions warranting dedicated research.
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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.