Neonatal presentation of a rare metabolic liver disease.
Article
in English
| IMSEAR
| ID: sea-124176
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Male
/
Infant, Newborn
/
Tyrosinemias
Language:
English
Year:
2008
Type:
Article
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