title: Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.
abstract: Galactosemia type 1 is an autosomal recessive disorder of galactose metabolism, determined by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT). GALT deficiency is classified as severe or variant depending on biochemical phenotype, genotype and potential to develop acute and long-term complications. Neonatal symptoms usually resolve after galactose-restricted diet; however, some patients, despite the diet, can develop long-term complications, in particular when the GALT enzyme activity results absent or severely decreased. The mechanisms of acute and long-term complications are still discussed and several hypotheses are presented in the literature like enzymatic inhibition, osmotic stress, endoplasmic reticulum stress, oxidative stress, defects of glycosylation or epigenetic modification. This review summarizes the current knowledge of galactosemia, in particular the putative mechanisms of neonatal and long-term complications and the molecular genetics of GALT deficiency.
authors.affiliation: Division of Metabolic Diseases, Department of Paediatrics, University Hospital of Padua, Padua, Italy.|Cardiomyology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy.
authors.forename: E
authors.identifier: 0000-0002-9864-2620
authors.initials: E
authors.lastname: Viggiano
authors.affiliation: Department of Chemistry and Biology "A. Zambelli", University of Salerno, Salerno, Italy.|Interuniversity Center "ELFID", University of Salerno, Fisciano, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Marabotti
authors.affiliation: Cardiomyology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Politano
authors.affiliation: Division of Metabolic Diseases, Department of Paediatrics, University Hospital of Padua, Padua, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Burlina
mesh_terms: D000483:Alleles; D044127:Epigenesis, Genetic / Q000235:genetics*; D005693:Galactosemias / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006031:Glycosylation; D006801:Humans; D018384:Oxidative Stress / Q000235:genetics*; D010641:Phenotype; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
keywords: galactosemia; genotype; neonatal and long-term complications; variants