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.

You run a battery of tests to determine the concentrations of several different amino acids in the child’s blood and urine. You assay for Ala, Ser, Pro, Glu, Gly, Lys, Gln, Asp, Val and Ile. Which of these amino acids would you expect to see at elevated levels? State your reasons.

Explanation / Answer

There is chances that Alanine and Glutamine can be elevated.

The reason being less amount of Glutamine and alanine is excreted out of kidneys ,hence leading to built up of these aminoacids in high amounts.

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