Results 11 to 20 of about 1,106 (149)

Current and Future Treatments for Classic Galactosemia [PDF]

Journal of Personalized Medicine, 2021
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal complications but is inadequate in preventing burdensome complications.
Ana I Coelho, Britt Delnoy
exaly   +6 more sources

The hypergonadotropic hypogonadism conundrum of classic galactosemia [PDF]

Human Reproduction Update, 2023
AbstractBACKGROUNDHypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. Since its recognition in 1979, data have become available regarding the clinical spectrum, and the impact on fertility.
M Estela Rubio-Gozalbo, Levy Harvey L, Lai Kent   +2 more
exaly   +4 more sources

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

Journal of Advanced Research, 2018
Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program.
Christine W S Basanti, Kamal Nm, Magd A Kotb   +2 more
exaly   +3 more sources

A case report of classic galactosemia with a GALT gene variant and a literature review [PDF]

BMC Pediatrics
Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency,
Yong-cai Wang, Lian-cheng Lan, Xia Yang, Juan Xiao, Hai-xin Liu, Qing-wen Shan   +5 more
doaj   +2 more sources

Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia—A Pilot Study [PDF]

Biomedicines
Background: Despite life-saving newborn screening programs and a life-long galactose-restricted diet, many patients with classic galactosemia continue to develop long-term debilitating neurological deficits, speech dyspraxia, and primary ovarian ...
Olivia Bellagamba, Aaron J. Guo, Xinhua Yan, Joe Sarkis, Bijina Balakrishnan, Kent Lai   +5 more
doaj   +2 more sources

The natural history of classic galactosemia: lessons from the GalNet registry [PDF]

Orphanet Journal of Rare Diseases, 2019
Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT).
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry   +42 more
doaj   +2 more sources

A Pilot Study of Bone Marrow Transplantation in a GALT‐Null Rat Model of Classic Galactosemia [PDF]

JIMD Reports
Classic galactosemia (CG) is a rare inborn error of metabolism with substantial unmet medical need. Early detection, often by population newborn screening, enables immediate and life‐long dietary restriction of galactose, which is the current standard of
Shauna A. Rasmussen, Madelyn M. Seemiller, Ingrid Smith, Madeleine Wilson, Jennifer M. I. Daenzer, Keenan Wiggins, Judith L. Fridovich‐Keil   +6 more
doaj   +2 more sources

Single‐nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia [PDF]

Clinical and Translational Medicine
Background Classic galactosemia (CG) is an inborn error of galactose metabolism caused by mutations in the GALT gene. Premature ovarian insufficiency (POI) is a later complication that affects 80% of women with CG due to a significant decline in ovarian ...
Raghuveer Kavarthapu, Hong Lou, Thang Pham, Han Do, Mary E. Soliman, Taylor Badger, Ramya Balasubramanian, Victoria Huyhn, Maria De La Luz Sierra, Jacqueline C. Yano Maher, Veronica Gomez‐Lobo   +10 more
doaj   +2 more sources

Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. [PDF]

Case Reports in Neurology
Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia.
Ioannis Karafyllis, Jean-Marc Nuoffer, Joan-Philipp Michelis, Lara Chilver-Stainer   +3 more
doaj   +2 more sources

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell‐free translation method [PDF]

JIMD Reports, 2019
Classic galactosemia is an autosomal recessive disorder caused by deleterious variants in the galactose‐1‐phosphate uridylyltransferase (GALT) gene. GALT enzyme deficiency leads to an increase in the levels of galactose and its metabolites in the blood ...
Daffodil M. Canson, Catherine Lynn T. Silao, Salvador Eugenio C. Caoili   +2 more
doaj   +2 more sources