Hyperbetaalaninemia is a rare metabolic condition. It is caused by the build up of too much amino acid in the body, specifically the amino acid alanine. Amino acids are the units that make up proteins, which help to perform a wide range of functions for the body. The extra amino acids are toxic to the body, which is what leads to problems for individuals with this condition.
Usually, individuals with hyperbetaalaninemia will experience fast uncontrollable shaking movements (called convulsions), a lack of energy, extreme tiredness, and problems with the brain (called encephalopathy). For the encephalopathy in particular, symptoms may include loss of memory, small changes in personality, and problems concentrating.
Doctors can diagnose hyperbetaalaninemia by looking at clinical symptoms. Depending on the type of symptoms that are present and how extreme they are, treatment may vary for different individuals. If you or a family member has been diagnosed with hyperbetaalaninemia, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 25, 2018