Acute liver failure of probable metabolic etiology: Tyrosinemia type I: Case report and literature review
DOI:
https://doi.org/10.24054/cbs.v2i3.3094Keywords:
acute liver failure, tyrosinemia, liver transplantationAbstract
Introduction: Acute liver failure is an uncommon but potentially fatal multisystemic disease presenting in a previously healthy child with rapid progression to liver dysfunction and severe synthesis failure. The main causes can be grouped as follows: infectious, metabolic (tyrosinemia, galactosemia), drugs, vascular, autoimmune hepatitis, neoplasms and undetermined. Tyrosinemia type I (THI) is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. THI is a rare disease, with an estimated frequency of no more than one case per 100,000 live newborns in the world population. Case: 5-year-old female patient on admission with clinical data of acute liver failure of probable metabolic etiology by paraclinical report and pathological anatomy was suspected Tyrosinemia type I. Conclusions: Treatment consists in the administration of nitisinone, and a protein-restricted diet should be established at the same time. The prognosis is determined by the risk of hepatocellular carcinoma that increases with the delay of treatment initiation.
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