Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12512
Abstract: Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a severe deficiency of galactose‐1‐phosphate:uridylyltransferase (GALT) activity leading… read more here.
Keywords: enzyme activity; zebrafish model; activity; activity zebrafish ... See more keywords
Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-017-1039-7
Abstract: Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of… read more here.
Keywords: galactosemia; classic galactosemia; primary ovarian; ovarian insufficiency ... See more keywords
Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2017.05.013
Abstract: OBJECTIVE To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years,… read more here.
Keywords: classic galactosemia; primary ovarian; ovarian insufficiency; fertility ... See more keywords
Hereditary galactosemia.
Sign Up to like & getrecommendations! Published in 2018 at "Metabolism: clinical and experimental"
DOI: 10.1016/j.metabol.2018.01.025
Abstract: Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal… read more here.
Keywords: galactosemia; classic galactosemia; hereditary galactosemia; deficiency ... See more keywords
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.08.012
Abstract: Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). Our recent study demonstrated a correlation between RBC GAL1P and long-term… read more here.
Keywords: classic galactosemia; galt; galactosemia patients; galactose phosphate ... See more keywords
The hypergonadotropic hypogonadism conundrum of classic galactosemia
Sign Up to like & getrecommendations! Published in 2022 at "Human Reproduction Update"
DOI: 10.1093/humupd/dmac041
Abstract: Abstract BACKGROUND Hypergonadotropic 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… read more here.
Keywords: fertility; classic galactosemia; hypergonadotropic hypogonadism; fertility preservation ... See more keywords
Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of tropical pediatrics"
DOI: 10.1093/tropej/fmac098
Abstract: BACKGROUND Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it is not diagnosed and treated in early periods of life. Clinical findings usually occur in the neonatal… read more here.
Keywords: diagnosis; estimated incidence; molecular characteristics; galactosemia ... See more keywords
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Sign Up to like & getrecommendations! Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0954-8
Abstract: BackgroundClassic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.Many mutations in the GALT gene responsible for classic galactosemia have… read more here.
Keywords: galactosemia; effect; classic galactosemia; q188r mutation ... See more keywords
Harnessing the Power of Purple Sweet Potato Color and Myo-Inositol to Treat Classic Galactosemia
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158654
Abstract: Classic Galactosemia (CG) is a devastating inborn error of the metabolism caused by mutations in the GALT gene encoding the enzyme galactose-1 phosphate uridylyltransferase in galactose metabolism. Severe complications of CG include neurological impairments, growth… read more here.
Keywords: potato color; sweet potato; myo inositol; purple sweet ... See more keywords