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Neonatal Presentation of a rare metabolic liver disease
 
Jane JE David, Milind S Tullu, Pravin Rathi, Niraj Sawalakhe, Radha G Ghildiyal
Department of Paediatrics & Gastroenterology,
TN Medical College & BYL Nair Hospital,
Mumbai Central,
Mumbai: 400 008, India.


Corresponding Author
: Dr. Milind S Tullu
Email : milindtullu@vsnl.net,
milindtullu@yahoo.com


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 áfetoprotein 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.