Question
My neighbor’s child has been diagnosed with pediatric galactosemia. I would like to learn more about this condition.
Answer
Pediatric galactosemia is a chromosomal recessive genetic disorder. The cause lies in the deficiency of an enzyme called Gal-1-PUT within the affected child’s red blood cells and liver cells. This enzyme is typically responsible for converting galactose-1-phosphate into glucose-1-phosphate. Due to the lack of this enzyme, galactose-1-phosphate cannot be converted normally, resulting in an accumulation of galactose and galactose-1-phosphate in the bloodstream and tissues.