Neonatal citrullinemia: Treatment with keto-analogues of essential amino acids
作者： J. Thoene , M. Batshaw , E. Spector , S. Kulovich , S. Brusilow
DOI: 10.1016/S0022-3476(77)80633-1
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摘要: A patient with neonatal onset citrullinemia survived to 8 months of age when treated a mixture essential amino acids and their keto-analogues. The initial plasma citrulline concentration was 2.7 mM: the blood ammonia greater than 500 μM. During first week therapy, became normal that reduced by almost 50%. It possible institute progressive increases in dietary calories protein; growth development resolution all clinical signs disease ensued. died at after an episode diarrhea dehydration, probably viral origin.
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