Abstract
A 2 1/2 year old girl was admitted to the hospital because of recurrent vomitting, impaired consciousness, and hyperammonemia. MR and CT findings resembled an infarct, but she was found to have a defect in the urea cycle, partial ornithine transcarbamylase deficiency.
MeSH terms
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Amino Acid Metabolism, Inborn Errors / complications
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Amino Acid Metabolism, Inborn Errors / diagnosis*
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Amino Acid Metabolism, Inborn Errors / metabolism
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Ammonia / blood
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Cerebral Infarction / diagnosis*
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Cerebral Infarction / etiology
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Cerebral Infarction / metabolism
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Child, Preschool
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Female
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Humans
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Magnetic Resonance Imaging
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Ornithine Carbamoyltransferase Deficiency Disease*
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Tomography, X-Ray Computed
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Urea / metabolism*