BIOC 440 Chapter Notes -Nucleotidyltransferase, Dominance (Genetics), Galactose
15 May 2022
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A newborn male with poor feeding, vomiting, and jaundice had a urine sample collected and awaited further testing. The urine was positive for reducing substances and negative for glucose, which indicates galactosemia. Galactosemia is an autosomal recessive disorder due to the improper metabolization of galactose. The most common type of galactosemia is classic, which involves the deficiency of galt galactose-1-phosphate uridylyltransferase. This enzyme is responsible for the body"s ability to break down and utilize the sugar galactose. In the diet, lactose is broken down by the enzyme lactase into glucose and galactose. The galactose is then converted via a three-step process to glucose for energy. Correction of the newborn"s diet is important due to lactose being their main source of carbohydrates. Soya milk is a plant-based formula, which contains sucrose as its basic disaccharide. Sucrose is then broken down into glucose and fructose. Due to the lack of galactose, this formula is safe for infants and children with galactosemia.
