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
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
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
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.03.012
Abstract: All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex… read more here.
Keywords: mass spectrometry; galactosemia; biotinidase deficiency; deficiency galactosemia ... See more keywords
Repurposing drugs for the treatment of galactosemia
Sign Up to like & getrecommendations! Published in 2019 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2019.1672533
Abstract: ABSTRACT Introduction: Galactosemia results from mutations in genes which code for enzymes involved in the metabolism of galactose. It has a wide range of symptoms ranging from the relatively mild (early onset cataracts) to severe… read more here.
Keywords: treatment galactosemia; repurposing drugs; galactosemia; treatment ... 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
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
Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Neuroradiology"
DOI: 10.3174/ajnr.a7016
Abstract: SUMMARY: Galactosemia is a rare genetic condition caused by mutation of enzymes involved in galactose and glucose metabolism. The varying clinical spectrum reflects the genetic complexity of this entity manifesting as acute neonatal toxicity syndrome,… read more here.
Keywords: neuroradiologic phenotyping; neonatal form; phenotyping galactosemia; form chronic ... See more keywords
Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified
Sign Up to like & getrecommendations! Published in 2020 at "Medicina"
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
Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
Sign Up to like & getrecommendations! Published in 2023 at "Medicina"
DOI: 10.3390/medicina59050856
Abstract: Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and… read more here.
Keywords: malformation; syndrome; endocrine disorders; case ... See more keywords