2-methylbutyrylglycinuria

Like most metabolic syndromes, patients with 2-Methylbutyrylglycinuria can have symptoms at a young age. This is because the body can only handle so much built up isoleucine before signs of this syndrome will start appearing. Since this syndrome is so rare, there have not been many reported cases. Cases that have been reported happen in infancy. Patients can ask their doctor about any symptoms they or their child might be experiencing if they are concerned about 2-Methylbutyrylglycinuria disease.

2-Methylbutyrylglycinuria may have early signs such as poor feeding, lack of energy, vomiting, irritable mood, and low muscle tone (hypotonia). If this syndrome goes undiagnosed the child may have learning disabilities, muscle weakness, delays in motor skills (standing or walking). In severe cases, a child may start having seizures and go into a coma. Patients can ask their doctor about any symptoms they or their child might be experiencing if they are concerned about 2-Methylbutyrylglycinuria disease.

Most of the “organic acidemias” are similar. If a child has an uneventful period, and then has some features including low muscle tone, delayed growth, and lethargy, testing amino acids is something that should be considered. Once the proper tests are run, health professionals should be able to diagnose the condition. The best person to help find out if someone has 2-Methylbutyrylglycinuria disease is a physician with special training in biochemical genetics. These specialists can be found by talking to a family practice or general physician or by searching the American College of Medical Genetics.

A unique feature of 2-Methylbutyrylglycinuria is that if it is diagnosed early and treatment begins, the child will generally not have symptoms of the disease. In order to make an early diagnosis of 2-Methylbutyrylglycinuria disease, parents can talk to their doctor about having all necessary tests in the newborn period.

Though there are typical features seen in patients with 2-Methylbutyrylglycinuria, each case is slightly different. It is possible that some patients with 2-Methylbutyrylglycinuria are never diagnosed because they do not show symptoms. Because this syndrome is so rare it is not clear how common certain features are. In order to find out if a particular symptom is related to 2-Methylbutyrylglycinuria, patients can talk to their main doctor or a medical geneticist.