ArticleJournal of inherited metabolic disease2013
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.
Article in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Appropriateness of newborn screening for classic galactosaemia: a systematic review.Journal of inherited metabolic disease · 2016Pooled it
- Novel Proactive Speech-Language Intervention Is More Effective Than Usual Care: Randomized Controlled Trial of Babble Boot Camp for Infants With Classic Galactosemia.Journal of speech, language, and hearing research : JSLHR · 2026Trial
- Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia.American journal of speech-language pathology · 2022Trial
- Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.American journal of speech-language pathology · 2021Trial
- Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia.F1000Research · 2019Trial
- Galactose tolerance in adults with classical galactosaemia. Considering the gaps.Molecular genetics and metabolism reports · 2026Article
- 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
- Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.JIMD reports · 2025Article
- Classical Hereditary galactosemia: findings in patients and animal models.Metabolic brain disease · 2024Review
- Brain function in classic galactosemia, a galactosemia network (GalNet) members review.Frontiers in genetics · 2024Review
- 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
- Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.Molecular genetics and metabolism · 2023Article
- Trends in specialized low-allergy infant formula dispensing in Ireland: 2016-2021.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2023Article
- Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.Nutrients · 2023Article
- Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment.Nutrients · 2023Article
- 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
- Article
- Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.Journal of inherited metabolic disease · 2022Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening for the inborn error of metabolism, classical galactosaemia prevents life-threatening complications in the neonatal period. It does not however influence the development of long-term complications and the complex pathophysiology of this rare disease remains poorly understood. The objective of this study was to report the development of a healthcare database (using Distiller Version 2.1) to review the epidemiology of classical galactosaemia in Ireland since initiation of newborn screening in 1972 and the long-term clinical outcomes of all patients attending the National Centre for Inherited Metabolic Disorders (NCIMD). Since 1982, the average live birth incidence rate of classical galactosaemia in the total Irish population was approximately 1:16,476 births. This reflects a high incidence in the Irish 'Traveller' population, with an estimated birth incidence of 1:33,917 in the non-Traveller Irish population. Despite early initiation of treatment (dietary galactose restriction), the long-term outcomes of classical galactosaemia in the Irish patient population are poor; 30.6 % of patients ≥ 6 yrs have IQs <70, 49.6 % of patients ≥ 2.5 yrs have speech or language impairments and 91.2 % of females ≥ 13 yrs suffer from hypergonadotrophic hypogonadism (HH) possibly leading to decreased fertility. These findings are consistent with the international experience. This emphasizes the requirement for continued clinical research in this complex disorder.
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