Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic

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encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA

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Inherited disorder characterised by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonaemia, metabolic

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déficit en CA-VA

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Disorders of:histidine metabolism | tryptophan metabolism

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Anomalies du métabolisme de:histidine | tryptophane

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A rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a pre

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déficit en carbamoyl-phosphate synthétase 1

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D'autres ont cherché : disorders of ornithine metabolism disorders of histidine metabolism disorder of cholesterol metabolism inborn error of metabolism inborn metabolic disorder metabolic disorder tryptophan metabolism disorders ornithine metabolism

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'disorders ornithine metabolism' ->

Date index: 2023-05-14