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
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2018-0457
Abstract: Abstract Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can… read more here.
Keywords: turkey; diagnosis; galactosemia; classical galactosemia ... See more keywords
Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified
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DOI: 10.3390/medicina56110559
Abstract: Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present… read more here.
Keywords: galactosemia; classical galactosemia; galt gene; galt ... See more keywords