2-methylbutyrylglycinuria

Some children born with 2-Methylbutyrylglycinuria disease may have severe symptoms that require significant treatment while others may have no symptoms at all. Each family with 2-Methylbutyrylglycinuria disease can have very different experiences, however with early diagnosis and treatment many children with 2-Methylbutyrylglycinuria disease will live a normal life. A genetic counselor or medical geneticist can provide guidance for what to expect in each family with 2-Methylbutyrylglycinuria disease. 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. A medical geneticist can be found by searching the American College of Medical Genetics website.