Results 31 to 40 of about 1,106 (149)

Experiences with galactosemia in Croatia [PDF]

Liječnički vjesnik, 2023
The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1 ...
Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka†, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić   +18 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

Pathophysiology and management of classic galactosemic primary ovarian insufficiency

Reproduction and Fertility, 2021
Classic galactosemia is an inborn error of carbohydrate metabolism associated with early-onset primary ovarian insufficiency (POI) in young women. Our understanding of the consequences of galactosemia upon fertility and fecundity of affected women is ...
Synneva Hagen-Lillevik, John S Rushing, Leslie Appiah, Nicola Longo, Ashley Andrews, Kent Lai, Joshua Johnson   +6 more
doaj   +1 more source

Secondary Reporting of G6PD Deficiency on Newborn Screening

International Journal of Neonatal Screening, 2023
In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Stephanie C. Hoang, Pamela Blumenschein, Margaret Lilley, Larissa Olshaski, Aisha Bruce, Nicola A. M. Wright, Ross Ridsdale, Susan Christian   +7 more
doaj   +1 more source

Identification of novel mutations in classical galactosemia [PDF]

Human Mutation, 2005
Classical galactosemia is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Treatment through restriction of dietary galactose intake is lifesaving, but, in spite of this diet, most patients develop abnormalities.
Bosch, Annet M., Ijlst, Lodewijk, Oostheim, Wendy, Mulders, Joyce, Bakker, Henk D., Wijburg, Frits A., Wanders, Ronald J. A., Waterham, Hans R.   +7 more
openaire   +2 more sources

Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia

Disease Models & Mechanisms, 2013
SUMMARY Classic galactosemia is a genetic disorder that results from profound loss of galactose-1P-uridylyltransferase (GALT). Affected infants experience a rapid escalation of potentially lethal acute symptoms following exposure to milk.
Patricia P. Jumbo-Lucioni, Marquise L. Hopson, Darwin Hang, Yongliang Liang, Dean P. Jones, Judith L. Fridovich-Keil   +5 more
doaj   +1 more source

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

The challenges of classical galactosemia: HRQoL in pediatric and adult patients

Orphanet Journal of Rare Diseases, 2023
Abstract Background Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Two decades ago, lower motor-, cognitive- and social health related quality of life (HRQoL) was
Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch   +6 more
openaire   +4 more sources

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

The unfolded protein response has a protective role in yeast models of classic galactosemia

Disease Models & Mechanisms, 2014
Classic galactosemia is a human autosomal recessive disorder caused by mutations in the GALT gene (GAL7 in yeast), which encodes the enzyme galactose-1-phosphate uridyltransferase.
Evandro A. De-Souza, Felipe S. A. Pimentel, Caio M. Machado, Larissa S. Martins, Wagner S. da-Silva, Mónica Montero-Lomelí, Claudio A. Masuda   +6 more
doaj   +1 more source