Question

Pick one inborn error of carbohydrate metabolism (one discussed in our text or another you find through your investigations. Provide an overview of the abnormalities in metabolism of that specific disorder. Discuss treatment and life expectancy/quality of life. Support your answers and cite sources in APA.

Answer 1

ANSWER :

Galactosemia is an inborn or inherited genetic disorder in which newborn babies are unable to digest lactose sugar of milk (incomplete digestion of lactose sugar). Normally, milk sugar (lactose) convert into galactose followed by glucose via enzyme in duodenum part of small intestine but in this type of inborn error of carbohydrate metabolism, galactose not converted to glucose in further digestion.

The children those have inborn galactose intolerance appear some symptoms like vomiting, loss of appetite, jaundice and neurological disorders etc. These children should stop milk & other milk products in their diet to escape from related complications. But modern days it can be treated via gene therapy in which the defected gene is replaced newborns with healthy gene that can able to produce galactosidase enzyme.