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Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants
Author(s) -
Viggiano E.,
Marabotti A.,
Politano L.,
Burlina A.
Publication year - 2018
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13030
Subject(s) - galactosemia , phenotype , biology , genetics , allele , endoplasmic reticulum , galactose , genotype , enzyme , endocrinology , gene , biochemistry
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.