These comments are made for the purpose of discussion and should NOT be used as recommendations for or against therapies or other treatments. An individual patient is always advised to consult their own physician.
Genetic Defects
Question: Can anyone give me information on urea cycle defects and sudden-death syndrome?
Answer: There are several steps in the urea cycle, and genetic defects of the enzymes necessary at each step are found in the medical literature. These defects usually lead to difficulty with proteins, which leads to mental deficiency and large amounts of ammonia in the blood. These defects will be present from birth and by themselves would not lead to sudden death; however, they would severely impair the normal mental functioning of an individual.
