A New Method for Screening of Hyperammonemia
A number of enzymatic defects are known such as congenital hyperammonemia, citrullinemia, argininosuccinic aciduria or hyperargininemia, which involve the urea cycle. Patients with these disorders exhibit mental retardation, presumably resulting from intoxication with ammonia. Mental retardation can be prevented by early treatment with a low protein diet and/or use of sodium benzoate to decrease the blood ammonia level.
KeywordsUrea Cycle Sodium Benzoate Perinatal Asphyxia Blood Ammonia Ornithine Transcarbamylase
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