Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12580
Abstract: Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose‐1‐phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it… read more here.
Keywords: galactose phosphate; phosphate measurement; classical galactosemia; galactosemia ... 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
GlycoForum - Technical Note Demonstrating the utility of sugar-phosphate phosphatases in coupled enzyme assays: galactose-1-phosphate uridylyltransferase as proof-of-concept.
Sign Up to like & getrecommendations! Published in 2022 at "Glycobiology"
DOI: 10.1093/glycob/cwac085
Abstract: During our biochemical characterization of select bacterial phosphatases belonging to the haloacid dehalogenase (HAD) superfamily of hydrolases, we discovered a strong bias of Salmonella YidA for glucose-1-phosphate (Glc-1-P) over galactose-1-phosphate (Gal-1-P). We sought to exploit… read more here.
Keywords: phosphate; galactose phosphate; yida; phosphate phosphatases ... See more keywords