Abstract
In a patient with N-acetylglutamate synthase (NAGS) deficiency, incorporation of an isotopic label from ammonium chloride into urea was markedly reduced before treatment with N-carbamyl-L-glutamate (NCLG) and completely normalized following treatment. Blood ammonia rose following ammonium tracer ingestion before treatment but remained low following treatment. Serum urea concentration doubled following the treatment.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Acetyltransferases / deficiency*
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Acetyltransferases / genetics
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Adolescent
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Adult
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Amino-Acid N-Acetyltransferase
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Ammonia / blood
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Ammonium Chloride / pharmacokinetics
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Blood Urea Nitrogen
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Female
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Glutamates / therapeutic use*
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Glutamine / blood
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Humans
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Nitrogen Isotopes / pharmacokinetics
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Urea / metabolism*
Substances
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Glutamates
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Nitrogen Isotopes
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Ammonium Chloride
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Glutamine
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N-carbamylglutamate
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Ammonia
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Urea
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Acetyltransferases
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Amino-Acid N-Acetyltransferase
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NAGS protein, human