Article
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
Journal of inherited metabolic disease - 1 Jan 2014
Coelho Ana I, Ramos Ruben, Gaspar Ana, Costa Cláudia, Oliveira Anabela, Diogo Luísa, Garcia Paula, Paiva Sandra, Martins Esmeralda, Teles Elisa Leão, Rodrigues Esmeralda, Cardoso M Teresa, Ferreira Elena, Sequeira Sílvia, Leite Margarida, Silva Maria João, de Almeida Isabel Tavares, Vicente João B, Rivera Isabel
Abstract excerpt
Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of clinical symptoms whose pathophysiology is poorly understood. The high allelic heterogeneity of GALT...
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