Beta-Aminoisobutyric Aciduria

Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday.

Prefer to email? Our email address is contact@metabolicsupportuk.org.

This disorder is caused by a problem in the AGXT2 gene. The problem in this gene causes excretion of Beta-aminoisobutyric acid in urine. Clinical features are benign and have no significance. The onset of this disorder comes in neonatal and infancy period.  

 There is not enough information available about this disorder to write a summary. However, if you or someone you know has been diagnosed with this disorder, please get in touch and we will be happy to help in navigating what information is available, help you to make the most of your appointments, and offer emotional and practical support and advice. 

References are available on request. Please contact us by phoning 0845 241 2173 or emailing contact@metabolicsupportuk.org [Resource Library No: AAP002].