ArticleJournal of inherited metabolic disease2013
Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.
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 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- 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
- Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.Journal of inherited metabolic disease · 2025Article
- Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.Journal of inherited metabolic disease · 2023Article
- Article
- A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.Journal of inherited metabolic disease · 2021Article
- Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.Orphanet journal of rare diseases · 2019Article
- Screening for galactosemia: is there a place for it?International journal of general medicine · 2019Article
- Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.Journal of inherited metabolic disease · 2018Article
- 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.Journal of inherited metabolic disease · 2017Article
- Drosophila melanogaster Models of Galactosemia.Current topics in developmental biology · 2017Review
- Gastrointestinal Health in Classic Galactosemia.JIMD reports · 2017Article
- Early menopause: A hazard to a woman's health.The Indian journal of medical research · 2016Review
- Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.JIMD reports · 2015Article
- Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.Biochimica et biophysica acta · 2013Article
- Modifiers of ovarian function in girls and women with classic galactosemia.The Journal of clinical endocrinology and metabolism · 2013Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Classic galactosemia is a potentially lethal disorder that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism. Although early diagnosis and rigorous dietary restriction of galactose prevent or resolve the potentially lethal acute symptoms, patients are at markedly increased risk of long-term complications including significant cognitive, speech, and behavioral difficulties, among other problems. The mechanisms that underlie these long-term complications remain unclear, as do the factors that modify their severity. Here we explored the scholastic and behavioral outcomes experienced by a cohort of 54 school age children with classic galactosemia. Data collected included survey responses from parents and teachers, school records including standardized test scores, and GALT genotype data used to estimate predicted residual GALT activity based on a yeast expression system. As expected, many but not all of the children in our study demonstrated speech, scholastic, and behavioral difficulties. Perhaps most striking, we found that predicted cryptic residual GALT activity, often below the threshold of detection of clinical assays, appeared to modify scholastic outcome. These data raise the intriguing possibility that cryptic GALT activity might also influence the severity of other long-term complications in classic galactosemia.
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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.