maple_syrup_urine_disorder

Maple Syrup Urine Disease MSUD is a disorder that is very dangerous and possibly deadly. It affects how the body breaks down leucine, isoluecine, and valine; three of the bodies amino acids. They are broken down and used for energy when they are not used to build proteins. People with MSUD cant do this, they have a mutation that messes up one of the six proteins that act as a team to break it down. This six-protein team is called BCKD and the mutation makes it no longer affective for breaking down Leucine, isoleucine, and valine. When these can’t be broken down there is a unusually and dangerously high amount of these amino acids in the blood. If you don’t treat it you will die. This defect usually comes from chromosome 19 and it’s a problem with the alpha subunit encoder of BCKD. It is inherited recessively. Mom and dad are carriers and have no symptoms. The possible children combinations are normal, two carriers, and one affected or in other words, Bb and BB do not get it and bb does get it. The symptoms are: loss of appetite, fussiness, and sweet-smelling urine. If it is left untreated the person will die. Treatment consists of dieting as to restrict the amino acids that are affected, leucine, isoleucine, and Valine. If brain damage is to be avoided, treatment must be enacted fast. If the person eats something and has too much of the three amino acids than they can inject something that will help them use it all up. Even though only about 1 in 180,000 are born with it some communities test each baby for it by a heel blood sample. Some communities such as Pennsylvanian Mennonites have babies as much as 1 out of 176 that have it.