Abstract
Urea cycle disorders and other hyperammonemic syndromes should be considered in the differential diagnosis in newborns with a history of severe vomiting, lethargy, and seizures, and in infants with feeding problems, episodic vomiting, and altered consciousness. Although the acute neonatal forms of urea cycle disorders are almost always lethal, several of the subacute forms of hyperammonemic syndromes respond favorably to early treatment.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Metabolism, Inborn Errors / diagnosis*
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Amino Acid Metabolism, Inborn Errors / therapy
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Ammonia / blood*
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Argininosuccinate Synthase / deficiency
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Argininosuccinic Aciduria
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Carbamoyl-Phosphate Synthase (Ammonia) / deficiency
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Citrulline / metabolism
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Diagnosis, Differential
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Humans
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Hyperargininemia
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Infant, Newborn
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Infant, Newborn, Diseases / diagnosis*
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Lysine / metabolism
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Ornithine / metabolism
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Ornithine Carbamoyltransferase Deficiency Disease
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Syndrome
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Urea / metabolism*
Substances
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Citrulline
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Ammonia
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Urea
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Ornithine
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Carbamoyl-Phosphate Synthase (Ammonia)
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Argininosuccinate Synthase
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Lysine