Results 71 to 80 of about 870 (139)

Pretreatment With a Selected Strain of Baker's Yeast, GY007, Prevents the Accumulation of Galactose Metabolites Following Dietary Galactose Exposure in a GALT‐Null Rat Model of Classic Galactosemia

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT The current standard of care for patients with classic galactosemia (CG) involves lifelong dietary restriction of high galactose foods, including most dairy products. Here, we present the results of a pilot study testing whether pretreatment with GY007, a strain of baker's yeast selected to metabolize galactose despite the presence of other ...
Shauna A. Rasmussen, Olivia S. Garrett, Judith L. Fridovich‐Keil   +2 more
wiley   +1 more source

Premature ovarian insufficiency in patients with galactosemia

Педиатрическая фармакология
Background. Galactosemia is a congenital disorder of carbohydrate metabolism caused by a defect in any of the enzymes of galactose metabolism. One of the long-term complications is premature ovarian insufficiency (POI), which is more common in patients ...
Irina V. Karachentsova, Elena V. Sibirskaya, Adelina A. Khairullina   +2 more
doaj   +1 more source

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +1 more source

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis [PDF]

, 2016
Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. Low BMD was defined as a Z-score ≤-2 standard deviations (SD).
van Erven, Britt, Welling, Lindsey, van Calcar, Sandra C., Doulgeraki, Artemis, Eyskens, François, Gribben, Joanna, Treacy, Eileen P., Vos, Rein, Waisbren, Susan E., Rubio-Gozalbo, M. Estela, Bosch, Annet M.   +10 more
openaire   +4 more sources

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia. [PDF]

J Clin Med, 2023
Lotz-Havla AS, Christmann T, Parhofer KG, Maier EM, Havla J.   +4 more
europepmc   +1 more source

Classical galactosemia

, 2017
For classical galactosemia, (CG), an autosomal recessive inborn error of galactose metabolism, a galactose-restricted diet is the only available treatment. The diet prevents death in the first weeks of life, but unfortunately does not prevent the occurrence of long-term complications in these patients.
openaire   +1 more source

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified. [PDF]

Medicina (Kaunas), 2020
Rokaitė R, Traberg R, Dženkaitis M, Kučinskienė R, Labanauskas L.   +4 more
europepmc   +1 more source

Classical galactosemia

Classical galactosemia (CG) is an autosomal recessive inborn error of galactose metabolism caused by a severe deficiency of the enzyme galactose-1-phosphate-uridyltransferase (GALT). In affected newborns, ingestion of galactose from breast milk or infant formula causes life-threatening symptoms.
openaire   +2 more sources

Reproductive potential in classical galactosemia: A case series based perspective. [PDF]

Eur J Obstet Gynecol Reprod Biol X
Panis B, van Golde RJ, Brouwers MC, Körver-Keularts IM, Noga MJ, Rubio-Gozalbo ME.   +5 more
europepmc   +1 more source

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. [PDF]

J Inherit Metab Dis, 2017
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM, Galactosemia Network (GalNet).   +23 more
europepmc   +1 more source