Which enzymes of the urea cycle may be deficient in the baby girl? Explain.

a. Blood plasma analyses indicated the following: citrulline, 200 M (normal 10 – 20 M); arginine 40 M (normal 52 – 72 ); ammonia, 1,100 M (normal 5 – 35 M); blood urea nitrogen, 1 mg/dL (normal 4-15 mg/dL). Which enzymes of the urea cycle may be deficient in the baby girl? Explain.

b. Name one amino acid that may be elevated in the blood plasma in the baby girl. Write the enzymatic reactions that lead to the elevation.

c. Despite the low production of urea, amino nitrogen can be excreted via urea cycle intermediates. Which amino acid supplement in the diet can be recommended to enhance entry of the amino nitrogen into the urea cycle? Why?

2. A baby girl appeared normal at birth but developed hyperammonaemia after 24 hours. At 56 hours, she developed focal seizure activity.

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