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Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment
Biomolecules, 2022 Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the ...
Mariangela Succoio +2 more
exaly +3 more sources
International Journal of Neonatal Screening, 2021 The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4′-epimerase (GALE), are ...
Yoichi Wada +2 more
exaly +3 more sources
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience [PDF]
Clinical Case ReportsGalactosemia 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.
Mohammadreza Alaee +4 more
doaj +2 more sources
Social cognition, psychosocial development and well-being in galactosemia [PDF]
Orphanet Journal of Rare DiseasesBackground Classic galactosemia is a rare inherited metabolic disease with long-term complications, particularly in the psychosocial domain. Patients report a lower quality of social life, difficulties in interactions and social relationships, and a ...
Clémentine Bry +3 more
doaj +2 more sources
A case report of classic galactosemia with a GALT gene variant and a literature review [PDF]
BMC PediatricsBackground Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency,
Yong-cai Wang +5 more
doaj +2 more sources
A Pilot Study of Bone Marrow Transplantation in a GALT‐Null Rat Model of Classic Galactosemia [PDF]
JIMD ReportsClassic galactosemia (CG) is a rare inborn error of metabolism with substantial unmet medical need. Early detection, often by population newborn screening, enables immediate and life‐long dietary restriction of galactose, which is the current standard of
Shauna A. Rasmussen +6 more
doaj +2 more sources
Orthotopic Liver Transplantation in a Patient With GALT p.Ser135Leu/Null [PDF]
JIMD ReportsWe report the case of a now 12‐year‐old male compound heterozygous for a novel GALT null variant and the p.Ser135Leu variant, associated with clinical variant galactosemia.
Kara Simpson +7 more
doaj +2 more sources
Pathophysiology and management of classic galactosemic primary ovarian insufficiency
Reproduction and Fertility, 2021 Classic galactosemia is an inborn error of carbohydrate metabolism associated with early-onset primary ovarian insufficiency (POI) in young women. Our understanding of the consequences of galactosemia upon fertility and fecundity of affected women is ...
Synneva Hagen-Lillevik +6 more
doaj +1 more source
The genetic basis of classical galactosaemia in Polish patients
Orphanet Journal of Rare Diseases, 2021 Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established
Aleksandra Jezela-Stanek +5 more
doaj +1 more source
Secondary Reporting of G6PD Deficiency on Newborn Screening
International Journal of Neonatal Screening, 2023 In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Stephanie C. Hoang +7 more
doaj +1 more source