Abstract
We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acids, Basic / blood
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Ammonia / blood
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Arginase / analysis
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Arginine / blood
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Brain Edema / congenital*
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Brain Edema / metabolism
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Female
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Glutamine / blood*
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Humans
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Hyperargininemia*
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Infant, Newborn
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Kidney / enzymology
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Liver / enzymology
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Renal Dialysis
Substances
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Amino Acids, Basic
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Glutamine
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Ammonia
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Arginine
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Arginase