What is 2-Methylbutyrylglycinuria disease?
2-Methylbutyrylglycinuria is also called 2-MBG and is an inherited metabolic disorder. Metabolism is the process the body uses to get or make energy from food. If someone has a metabolic disorder, the body is not able to properly breakdown food to make energy. People with 2-MBG are not able to break down an amino acid called isoleucine.
The body uses chemicals called enzymes to break down food. The enyzme used to break down isoleucine is called 2-methylbutyryl-CoA dehydrogenase. Patients with 2-MBG do not make enough of this enzyme. This can lead to a lack of energy for the body to use and a build up of isoleucine. If the body has too much isoleucine, it can be harmful and can cause symptoms of 2-MBG. The symptoms of 2-MBG can be different for everyone. They include sleepiness, poor appetite, irritability, fever, vomiting and weakness. These symptoms can occur when someone has gone too long without eating, had a meal with too much protein, or has an illness such as the flu.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/2-methylbutyryl-coa-dehydrogenase-deficiency/overview/16861 • DATE UPDATED: 2016-06-14