Results 11 to 20 of about 1,934 (207)

The molecular biology of galactosemia [PDF]

Genetics in Medicine, 1998
Classic galactosemia is an autosomal recessive disorder caused by the deficiency of galactose 1-phosphate uridyltransferase (GALT). Although the potentially lethal, neonatal hepatotoxic syndrome is prevented by newborn screening and galactose restriction, long-term outcome for older patients with galactosemia remains problematic.
Louis J. Elsas, Kent Lai
openaire   +4 more sources

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience. [PDF]

Clin Case Rep
ABSTRACT Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose‐1‐phosphate‐uridyltransferase deficiency. We report on a case of an infant who was admitted with poor feeding, lethargy, and poor weight gain.
Alaee M, Saneifard H, Shakiba M, Hanifeh M, Moarefian S.   +4 more
europepmc   +2 more sources

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. [PDF]

J Inherit Metab Dis
ABSTRACT The Leloir pathway was elucidated decades ago, unraveling how galactose is metabolized in the body. Different inborn errors of metabolism in this pathway are known, the most frequent and well‐studied being Classic Galactosemia (CG) (OMIM 230400) due to pathogenic variants in the GALT gene.
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.   +4 more
europepmc   +2 more sources

Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia. [PDF]

J Inherit Metab Dis
ABSTRACT Classic galactosemia (CG) is a rare inherited metabolic disease caused by mutations in the GALT gene encoding the enzyme galactose‐1 phosphate uridylyltransferase in galactose metabolism. The condition develops as a potentially fatal illness during the newborn period, but its acute clinical manifestations can be alleviated through a galactose ...
Bellagamba O, Guo AJ, Senthilkumar S, Lillevik SH, De Biase D, Lai K, Balakrishnan B.   +6 more
europepmc   +2 more sources

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia. [PDF]

J Clin Pharmacol
Abstract To evaluate the pharmacodynamic effects and clinical outcomes of orally administered once‐daily govorestat (AT‐007), a central nervous system penetrant aldose reductase inhibitor, the double‐blind placebo‐controlled ACTION‐Galactosemia Kids study (NCT04902781) randomly assigned 47 participants (2‐17 years old) with Classic Galactosemia to 18 ...
Bailey E, Phan H, Ahmad A, Thomas J, Ames EG, Pritchard AB, Quinonez SC, Wang S, Dayley C, Salt A, Pick C, Durrant A, Johnson S, Nicodemus-Johnson J, Dickson SP, Perfetti R, Hendrix SB, Shendelman S.   +17 more
europepmc   +2 more sources

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease

Clinical Genetics, Volume 103, Issue 2, Page 214-218, February 2023., 2023
Whole exome sequencing of a mother and daughter with isolated Fanconi syndrome revealed a novel variant of GATM, c.965G>C p.(Arg322Pro). Molecular dynamic simulation confirmed that the abnormal protein product would tend to form multimers likely to disrupt mitochondrial function.
Eleanor G. Seaby, Steven Turner, David J. Bunyan, Fariba Seyed‐Rezai, Jonathan Essex, Rodney D. Gilbert, Sarah Ennis   +6 more
wiley   +1 more source

Health and well-being of maturing adults with classic galactosemia. [PDF]

J Inherit Metab Dis
Abstract Long‐term outcomes in classic galactosemia (CG) have been studied previously, but all prior studies have relied on cohorts of patients that were small in number, or heavily skewed toward children and young adults, or both. Here, we extend what is known about the health and well‐being of maturing adults with CG by analyzing the results of ...
Garrett OS, Druss JJ, Vos EN, Fu YD, Lucia S, Greenstein PE, Bauer A, Sykut-Cegielska J, Stepien KM, Arbuckle C, Grafakou O, Meyer U, Vanhoutvin N, Pané A, Bosch AM, Rubio-Gozalbo E, Berry GT, Fridovich-Keil JL.   +17 more
europepmc   +2 more sources

Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. [PDF]

Mol Genet Metab, 2023
Stettner NM, Cutler DJ, Fridovich-Keil JL.   +2 more
europepmc   +3 more sources

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

Carbohydrate Kinases: A Conserved Mechanism Across Differing Folds [PDF]

, 2019
This is the final version. Available from MDPI via the DOI in this recordCarbohydrate kinases activate a wide variety of monosaccharides by adding a phosphate group, usually from ATP.
Harmer, NJ, Roy, S, Vivoli Vega, M
core   +1 more source