2-methylbutyrylglycinuria

Symptoms

What are the main symptoms of 2-Methylbutyrylglycinuria disease?

Since 2-Methylbutyrylglycinuria or 2-MBG is caused by the build-up of isoleucine, symptoms will appear gradually. The first signs of 2-MBG are poor feeding, lack of energy, vomiting, irritable mood, low muscle tone (hypotonia), delayed growth, and developmental delays. Sometimes these symptoms can evolve into more serious symptoms such as difficulty breathing, seizures, coma, and learning disabilities. Fortunately, 2-MBG can be caught through a blood test performed on infants called newborn screening. If 2-MBG is diagnosed early enough, symptoms may never develop if properly controlled with diet. 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.

References
Show More Content Like This

More Symptoms Content

Are there earlier onset, later onset, or variant forms of 2-Methylbutyrylglycinuria disease?

What health problems should I look for in 2-Methylbutyrylglycinuria disease?

What other diseases look like 2-Methylbutyrylglycinuria?

Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of 2-Methylbutyrylglycinuria disease?

Are all cases of 2-Methylbutyrylglycinuria disease the same?

Are there earlier onset, later onset, or variant forms of 2-Methylbutyrylglycinuria disease?

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.

References
What health problems should I look for in 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.

References
What other diseases look like 2-Methylbutyrylglycinuria?

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.

References
Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of 2-Methylbutyrylglycinuria disease?

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.

References
Are all cases of 2-Methylbutyrylglycinuria disease the same?

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.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me