Article
Molecular basis and clinical presentation of classic galactosemia in a Croatian population.
Journal of pediatric endocrinology & metabolism : JPEM - 26 Jan 2018
Ramadža Danijela Petković, Sarnavka Vladimir, Vuković Jurica, Fumić Ksenija, Krželj Vjekoslav, Lozić Bernarda, Pušeljić Silvija, Pereira Hana, Silva Maria João, Tavares de Almeida Isabel, Barić Ivo, Rivera Isabel
Abstract excerpt
BACKGROUND: Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity of galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330 mutations have been described, with p.Q188R and p.K285N being the most common in Caucasian populations. Although acute manifestations can be fully avoided by a...
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