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Doctors' Answers to "Frequently Asked Questions" - Genetic Defects
Genetic Disorder [posted 8/4/98]
Answer: Probably a non-viable combination.
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.