Results 1 to 10 of about 1,037 (94)

Brain function in classic galactosemia, a galactosemia network (GalNet) members review [PDF]

Frontiers in Genetics
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients.
Sabine Scholl-Bürgi, Dorothea Möslinger, Knerr Ina   +2 more
exaly   +4 more sources

Natural history of three late-diagnosed classic Galactosemia patients [PDF]

Molecular Genetics and Metabolism Reports
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and
Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo   +11 more
exaly   +4 more sources

Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach [PDF]

Molecules, 2021
Classic galactosemia is an inborn error of metabolism associated with mutations that impair the activity and the stability of galactose-1-phosphate uridylyltransferase (GALT), catalyzing the third step in galactose metabolism.
Gaetano D'Urso, Anna Marabotti, Carmen Tammone   +2 more
exaly   +4 more sources

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic ...
Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge   +7 more
doaj   +2 more sources

Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia [PDF]

Journal of Ovarian Research, 2022
Primary ovarian insufficiency is characterized by accelerated loss of primordial follicles, which results in ovarian failure and concomitant menopause before age 40. About 1–3% of females in the general population are diagnosed with POI; however, greater
Synneva Hagen-Lillevik, Joshua Johnson, Kent Lai   +2 more
doaj   +2 more sources

Puberty and fertility in classic galactosemia [PDF]

Endocrine Connections, 2021
Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelop mental ...
Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Anne Bachelot, Philippe Touraine, Philippe Labrune, Pascale de Lonlay, Michel Polak   +9 more
doaj   +2 more sources

Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial [PDF]

Orphanet Journal of Rare Diseases
Background Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic ...
Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge   +7 more
doaj   +2 more sources

Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time [PDF]

Journal of Patient-Reported Outcomes, 2023
Background Classic Galactosemia (CG) is a rare, autosomal recessive condition. Newborn screening and a timely galactose-restricted diet can resolve acute symptoms and decrease fatalities, but significant chronic, progressive morbidities remain and ...
Jason A. Randall, Carolyn Sutter, Lydia Raither, Stella Wang, Evan Bailey, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge   +7 more
doaj   +2 more sources

Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy‐based formula [PDF]

JIMD Reports, 2019
Classic galactosemia results from a deficiency in the galactose‐1‐phosphate uridylyltransferase (GALT) enzyme, which is essential for galactose metabolism. Treatment focuses on lactose restriction and is achieved with a soy‐based diet.
Julia A. Sabatino, Danielle Starin, Shamir Tuchman, Carlos Ferreira, Debra S. Regier   +4 more
doaj   +2 more sources

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia [PDF]

Orphanet Journal of Rare Diseases, 2018
Background Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho   +17 more
doaj   +2 more sources