Urea Cycle Defects and Hyperammonemia MCQ — NEET PG Practice Question | NEETPGAI
Urea Cycle Defects and Hyperammonemia
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flask-conical Biochemistry
A 5-year-old girl presents with acute encephalopathy, hyperammonemia (240 µmol/L), and normal plasma citrulline levels. Genetic testing reveals argininosuccinate lyase (ASL) deficiency. Regarding the biochemical and clinical features of ASL deficiency, all of the following are true EXCEPT:
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