Abstract
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
MeSH terms
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Adolescent
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Amylases / blood
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Chronic Disease
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Citrulline / therapeutic use
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Combined Modality Therapy
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Diet, Protein-Restricted / adverse effects
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Enteral Nutrition / adverse effects
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Gastrostomy / adverse effects
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Humans
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Lipase / blood
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Male
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Mutation / genetics
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Ornithine Carbamoyltransferase Deficiency Disease / complications*
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Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
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Ornithine Carbamoyltransferase Deficiency Disease / genetics*
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Ornithine Carbamoyltransferase Deficiency Disease / therapy
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Pancreatitis / blood
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Pancreatitis / enzymology
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Pancreatitis / etiology*
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Phenotype
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Risk Factors
Substances
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Citrulline
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Lipase
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Amylases