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.
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What are the synonyms for 2-Methylbutyrylglycinuria Disease?
There are several other names that 2-Methylbutyrylglycinuria can be called. These are:
- 2-MBCD deficiency
- 2-methylbutyryl-coenzyme A dehydrogenase deficiency
- 2-methylbutyryl glycinuria
- Short/branched-chain acyl-CoA dehydrogenase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency
To learn if there is another name for 2-Methylbutyrylglycinuria disease a doctor might use, ask them if they are using another term for 2-Methylbutyrylglycinuria disease or look on a reliable website such as Genetics Home Reference.
How common is 2-METHYLBUTYRYLGLYCINURIA?
2-Methylbutyrlglycinuria or 2-MBG is a rare condition. It is not known how common 2-MBG is in the majority of populations. However, 2-MBG is seen in about 1 in 250 to 1 in 500 people with Hmong ancestry. A genetic counselor or medical geneticist can help people understand how frequently 2-MBG has been seen in patients of a specific ethnicity. A genetic counselor in the area can be found on the National Society of Genetic Counselor’s “Find a Genetic Counselor” page of the website. You can find a medical geneticist by searching the American College of Medical Genetics website.
What is the usual abbreviation for 2-Methylbutyrylglycinuria disease?
The usual abbreviation for 2-Methylbutyrylglycinuria is 2-MBG. It is important to always look for a sentence that says they are shortening 2-Methylbutyrylglycinuria to "2-MBG" in an article, webpage, or other document to avoid any confusion.