Lipoamide dehydrogenase deficiency (E3) is an enzyme deficiency that causes a buildup of lactic acid in the body. Symptoms range from fatigue following mild exertion to acute episodes of hyperventilation, vomiting, and abdominal pain, occasionally resulting in death.
Age of onset can vary from infancy to adulthood.
The disease can be managed through diet and prompt medical intervention when an acute buildup of acid occurs.
Approximately 1 in 100 Ashkenazi Jews is a carrier of Lipoamide dehydrogenase deficiency. Screening will detect more than 95% of carriers.
More information:
- Learn about genetic testing for Lipoamide Dehydrogenase Deficiency on the GDF’s Know Your Genes website
