title: Neonatal presentation of a rare metabolic liver disease.
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.
authors.affiliation: Department of Paediatrics & Gastroenterology, TN Medical College & BYL Nair Hospital, Mumbai Central, Mumbai 400 008, India.
authors.forename: Jane J E
authors.initials: JJ
authors.lastname: David
authors.forename: Milind S
authors.initials: MS
authors.lastname: Tullu
authors.forename: Pravin
authors.initials: P
authors.lastname: Rathi
authors.forename: Niraj
authors.initials: N
authors.lastname: Sawalakhe
authors.forename: Radha G
authors.initials: RG
authors.lastname: Ghildiyal