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Monosaccharides improve symptoms of an animal model for type III galactosemia, through the activation of the insulin pathway.
Biomed Pharmacother
December 2024
Centro Andaluz de Biología del Desarrollo (CABD) - Universidad Pablo de Olavide (UPO), Departamento de Biología Molecular e Ingeniería Bioquímica, UPO/CSIC/JA, Sevilla 41013, Spain. Electronic address:
Type III galactosemia is characterized by the inability to metabolize galactose due to deficiency of the UDP-galactose-4-epimerase (GALE) gene, which catalyzes the interconversion of UDP-Galactose and UDP-Glucose. Additionally, GALE interconverts UDP-N-Acetylgalactosamine and UDP-N-Acetylglucosamine. These four sugars are needed for glycosylation of biomolecules.
View Article and Find Full Text PDFSingle-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia.
Clin Transl Med
October 2024
Division of Pediatric and Adolescent Gynecology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Article Synopsis
- - Classic galactosemia (CG) is linked to mutations in the GALT gene and leads to early ovarian insufficiency (POI) in 80% of women due to a decrease in ovarian reserve, though the underlying mechanisms are still unclear.
- - This study utilized advanced techniques like single-nucleus RNA sequencing to analyze ovary biopsies from prepubertal girls with CG, revealing seven key cell types and identifying disruptions in gene expression related to stress responses and cell survival.
- - The research highlighted significant changes in signaling pathways associated with ovarian function, indicating increased cellular stress and damage in primordial follicles, which could explain accelerated follicular loss in CG patients.
Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency.
BMC Pediatr
September 2024
Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.
Article Synopsis
- The study presents a rare case of two 9-year-old twins with galactose mutarotase (GALM) deficiency who have remained asymptomatic, even after gradually reintroducing galactose into their diet after a period of strict dietary restriction.
- Initial detection was through newborn screening, leading to biochemical normalization after dietary adjustments; the genetic analysis revealed a complete deletion of a specific exon in the GALM gene.
- The findings suggest that dietary liberalization may not negatively affect health in GALM deficiency, prompting further exploration into dietary management for this condition.
Social cognition, psychosocial development and well-being in galactosemia.
Orphanet J Rare Dis
September 2024
Univ. Savoie Mont Blanc, Univ. Grenoble Alpes, LIP/PC2S, Grenoble, 38000, France.
Background: Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a lower mental health. We hypothesised that social cognition deficits could partially explain this psychological symptomatology.
View Article and Find Full Text PDFHealth and well-being of maturing adults with classic galactosemia.
J Inherit Metab Dis
January 2025
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Article Synopsis
- A study analyzed long-term health outcomes in 92 adults (ages 30-78) with classic galactosemia (CG) and 38 unaffected siblings (ages 30-79) using anonymous surveys covering various health domains.
- Results showed that long-term complications in areas such as cognition, motor function, and psychosocial well-being persisted similarly to reports from younger groups, suggesting these issues do not worsen with age for most CG patients.
- The study explored connections between health outcomes and factors like early diet restrictions and age, finding some links to cataracts and bone health, but no significant trends were observed overall.
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