Neonatal presentation of a rare metabolic liver disease.

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Date
2008-10-28
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Abstract
Tyrosinemia is a rare paediatric metabolic liver disorder. A 15-days-old neonate born of a third degree consanguineous marriage presented with jaundice due to tyrosinemia, which progressed to fatal hepatic encephalopathy. The diagnosis was based on very high alpha-fetoprotein level, with urine aminoacidogram revealing tyrosine spot and liver biopsy depicting cirrhosis. Very early neonatal presentation and rapid progression were the unusual features of this case.
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David JJ, Tullu MS, Rathi P, Sawalakhe N, Ghildiyal RG. Neonatal presentation of a rare metabolic liver disease. Tropical Gastroenterology. 2008 Oct-Dec; 29(4): 229-31
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https://imsear.searo.who.int/handle/123456789/124176
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Tropical Gastroenterology