ArticleJournal of inherited metabolic disease2017
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.
Article 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 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Prenatal consequences of GALT deficiency in a rat model of classic galactosemia.PLoS genetics · 2026Article
- 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
- 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
- Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia.Journal of inherited metabolic disease · 2024Article
- Long-term complications in classic galactosemia are not progressive.Molecular genetics and metabolism · 2023Article
- Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.Molecular genetics and metabolism · 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
- 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
- AbnormalJIMD reports · 2021Article
- Hand fine motor control in classic galactosemia.Journal of inherited metabolic disease · 2021Article
- A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.Journal of inherited metabolic disease · 2020Article
- The natural history of classic galactosemia: lessons from the GalNet registry.Orphanet journal of rare diseases · 2019Article
- Screening for galactosemia: is there a place for it?International journal of general medicine · 2019Article
- Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.Orphanet journal of rare diseases · 2018Article
- Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.Journal of inherited metabolic disease · 2018Article
- Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.Journal of inherited metabolic disease · 2018Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
One of many vexing decisions faced by parents of an infant with classic galactosemia (CG) is how carefully to restrict non-dairy galactose from their growing child's diet. Until recently, many experts recommended vigorous lifelong dietary restriction of milk and all high-galactose dairy products as well as some non-dairy sources of galactose such as legumes and specific fruits and vegetables. Recently, experts have begun to relax their recommendations. The new recommendations, that restrict only high galactose dairy products, were made in the face of uncertainty, however, because no sufficiently powered study had been reported testing for possible association between rigor of non-dairy galactose restriction and severity of long-term outcomes in CG. Here we describe the largest study of diet and outcomes in CG reported to date, conducted using information gathered from 231 patients with CG and 71 unaffected sibling controls. We compared rigor of dietary galactose restriction, measured using a 4-point scale by a retrospective parent-response survey, with outcomes including growth, adaptive behaviors, receipt of speech therapy, receipt of special educational services, and for girls and women, a plasma marker of ovarian function (AMH). Our results confirmed the expected differences between patients and controls, but among patients showed no significant association between rigor of non-dairy galactose restriction in early childhood and any of the outcomes quantified. Indeed, some weak associations were seen suggesting that rigorous restriction of non-dairy galactose may be deleterious rather than beneficial. Despite limitations, these findings support the ongoing trend toward diet liberalization with regard to non-dairy sources of galactose for children and adults with classic galactosemia.
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