Debrancher Enzyme Deficiency
This condition is caused by a a genetic defect in the debrancher enzyme, which interferes with the breakdown of stored sugar in the muscles and liver. Seizures and growth retardation may be present when it onsets in childhood, and it may lead to death in childhood. The adult form may lead to exercise intolerance. Both forms of the disease may result in an enlarged heart and liver, low blood sugar, weakness, and seizures. This disease is autosomal recessive, meaning a defective gene must be inherited from each parent.
