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Alterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity: An overview of galactosemia type I

Abstract:

Galactosemia type I is caused by a deficiency of the galactose-1-phosphate uridylyltransferase enzyme, encoding by the GALT gene. This pathology is inherited in an autosomal recessive pattern. Following galactose intake by galactosemic neonates, a toxic buildup of galactose metabolism intermediates is produced. Promptly, various signs appeared such as lethargy, poor feeding, jaundice, and hepatomegaly. Treatment is relatively easy to achieve to prevent acute symptoms and save the baby’s life. However, even when patients undergo lifelong galactose dietary restrictions, some subjects develop mild to severe long-term complications. The mutational spectrum is characterized by allele heterogeneity, where few alleles have high frequency and a clear ethnic distribution. Missense mutations are the most common variants and are distributed along the whole GALT gene, altering functional and structural features of the enzyme. Dietary treatments consist of eliminating lactose- and galactose-rich foods and supplying formulas of soy milk. This diet should be maintained through the whole life of the patient. In contrast, the diet should be absolutely normal in the Duarte form of galactosemia. Experts reached a consensus and recommended the consumption of fruits, vegetables, legumes, unfermented soy products, and hard chesses.