As a pediatrician you are presented with a one-month old infant suffering from s

Question

As a pediatrician you are presented with a one-month old infant suffering from severe hyperammonemia. This child has low levels of blood urea, elevated levels of serum transaminase activity, and a generalized hyperaminoacidemia and aminoaciduria. In addition, blood levels of citrulline, argininosuccinate, and arginine are low. Whereas a liver tissue biopsy reveals that the level of mitochondrial carbamoyl phosphate synthetase is only about 15-25% of that expected of a normal biopsy the levels of all the other enzymes in the urea cycle appear to be normal

Your colleague also suggests that you should restrict the dietary intake of pyridoxine as well as the ?-keto acids of the essential amino acids. Do you agree or disagree? State your reasons.

Explanation / Answer

As a pediatrician you are presented with a one-month old infant suffering from s

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