Results 11 to 20 of about 5,107 (173)

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

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   +1 more source

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.
Magd A. Kotb, Lobna Mansour, Christine William Shaker Basanti, Wael El Garf, Ghada I.Z. Ali, Sally T. Mostafa El Sorogy, Inas E.M. Kamel, Naglaa M Kamal   +7 more
doaj   +1 more source

Fulminant Skin Abscesses and Hepatic Failure: A Notorious Disease Hidden in Plain Sight

Dubai Medical Journal, 2023
We present a one-month-old male brought in with diffuse large skin abscesses, failure to thrive, and hepatic failure. His status depreciated rapidly, requiring intensive care unit admission as a result of septic shock and multiple incision and drainage ...
Fatima Farid Mir, Azka Rafaqat, Fahad Fayyaz Butt, Mira Sedki Elmiaari, Layla AlRomaithi, Fatma Alzarawani, Faizah Azim Hashimy   +6 more
doaj   +1 more source

Cognitive functioning in patients with classical galactosemia: a systematic review

Orphanet Journal of Rare Diseases, 2019
Background Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level.
Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom, Gert J. Geurtsen   +4 more
doaj   +1 more source

Avaliação econômica em saúde: triagem neonatal da galactosemia Newborn screening for galactosemia: a health economics evaluation

Cadernos de Saúde Pública, 2011
Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise ...
José Simon Camelo Junior, Maria Inez Machado Fernandes, Salim Moysés Jorge, Lea Maria Zanini Maciel, Jair Lício Ferreira Santos, Alceu Salles Camargo Jr., Cláudia Souza Passador, Sílvia Helena Henriques Camelo   +7 more
doaj   +1 more source

Advances and Challenges in Classical Galactosemia. Pathophysiology and Treatment

Journal of Inborn Errors of Metabolism and Screening, 2022
Classical galactosemia is caused by the genetic deficiency of galactose-1-phosphate-urydyl-transferase resulting in clinical symptoms development during the first weeks of life including jaundice, hypotonia, lethargy, emesis, hepatomegaly, among others ...
Amanda R. Caro N., Verónica Cornejo, Johana M. Guevara-Morales, Olga Y. Echeverri-Peña   +3 more
doaj   +1 more source

Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells

Cells, 2020
Genetic defects of human galactose-1-phosphate uridyltransferase (hGALT) and the partial loss of enzyme function result in an altered galactose metabolism with serious long-term developmental impairment of organs in classic galactosemia patients.
Verena Janes, Simona Grabany, Julien Delbrouck, Stephane P. Vincent, Johannes Gottschalk, Lothar Elling, Franz-Georg Hanisch   +6 more
doaj   +1 more source

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

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   +1 more source

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

Frontiers in Pediatrics, 2020
Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
Lulu Li, Li Ma, Min Sun, Jiancheng Jiao, Yudong Zhang, Yue Tang, Nan Yang, Yuanyuan Kong   +7 more
doaj   +1 more source

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

Platelets, 2023
GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine.
Ana Marín-Quílez, Christian A. Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, Jose Maria Bastida   +5 more
doaj   +1 more source