Metabolic disorders are an important and critical diseases that should be handled wisely. These diseases are important due to the side effects they have on the body that could be dangerous. The cause of metabolic diseases are hard to know. One main metabolic disorder that was always hard to identify or know the cause for is the genetically transmitted metabolic disorders.
However, a recent study conducted by a team of scientists form the BC Children’s Hospital, the University of British Columbia (UBC) and an international team of researchers were able to identify a cause for a rare genetic metabolic disorder. According to the study, a metabolic disorder which causes the body to not breakdown some nutrients is a very dangerous disorder.
It was observed in the study that a certain mutation take form in a DNA for patients of the genetic disorder which Is the main reason behind it affecting humans. The study and results were led by Dr. Clara van Karnebeek who published it in the New England Journal of Medicine.
Dr. Clara commented on her findings saying, “To detect this kind of DNA multiplication, you can only use whole genome sequencing and have to search through billions of pieces of DNA; it’s truly a search for the needle in the haystack. With our new approach we have finally solved our mystery cases, and we now expect to find the genetic cause of other, as of yet unexplained, genetic metabolic diseases.”