Results 21 to 30 of about 870 (139)

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.
Delnoy, B., Coelho, A.I., Rubio-Gozalbo, M.E.   +2 more
openaire   +3 more sources

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

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle. [PDF]

Clin Case Rep
ABSTRACT Early recognition of hepatomegaly, hypoglycemia, and elevated liver enzymes in infants is crucial for diagnosing glycogen storage disease. Liver biopsy with PAS–diastase staining provides definitive confirmation. Prompt metabolic management and regular follow‐up are essential to prevent progression of fibrosis and long‐term hepatic ...
Shah RK, Khan SA, Devkota D, Aryal M, Subedi N, Aryal B, Gurubacharya B, Parajuli S, Gupta A, Parajuli SB, Kausar H.   +10 more
europepmc   +2 more sources

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

Classic galactosemia [PDF]

, 2020
Newborns with classic galactosemia present with life-threatening symptoms upon exposure to galactose-containing milk. These symptoms can be quickly resolved by early initiation of a galactose- restricted diet. However, the long-term outcome is disappointing, many patients develop complications affecting brain, gonads and, to a lesser extent, bone ...
openaire   +4 more sources

The genetic basis of classical galactosaemia in Polish patients

Orphanet Journal of Rare Diseases, 2021
Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established
Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska   +5 more
doaj   +1 more source

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

Orphanet Journal of Rare Diseases, 2018
Background Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype.
Michel van Weeghel, Lindsey Welling, Eileen P. Treacy, Ronald J. A. Wanders, Sacha Ferdinandusse, Annet M. Bosch   +5 more
doaj   +1 more source

Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele

Molecular Genetics and Metabolism Reports, 2020
Background: Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in various
Carolina Crespo, Hernán Eiroa, María Inés Otegui, Mara Cecilia Bonetto, Lilien Chertkoff, Luis Pablo Gravina   +5 more
doaj   +1 more source

The hypergonadotropic hypogonadism conundrum of classic galactosemia

Human Reproduction Update, 2022
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.
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Kent Lai, Eileen P Treacy, Harvey L Levy, Louise E Wilkins-Haug, M Estela Rubio-Gozalbo, Gerard T Berry   +10 more
openaire   +2 more sources

FSH isoform pattern in classic galactosemia [PDF]

Journal of Inherited Metabolic Disease, 2010
AbstractFemale classic galactosemia patients suffer from primary ovarian insufficiency (POI). The cause for this long‐term complication is not fully understood. One of the proposed mechanisms is that hypoglycosylation of complex molecules, a known secondary phenomenon of galactosemia, leads to FSH dysfunction.
Gubbels, C.S., Thomas, C.M.G., Wodzig, W.K., Olthaar, A.J., Jaeken, J., Sweep, C.G.J., Rubio-Gozalbo, M.E.   +6 more
openaire   +4 more sources