Hereditary tyrosinaemia type I presenting as multiple focal hepatic lesions

Bushra Afroze, Zehra Fadoo, Zabedah Mohammad Yunus

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Hereditary tyrosinaemia type I is a devastating autosomal recessive metabolic disorder, which, if untreated, causes liver failure, rickets, painful neurological crisis and hepatocellular carcinoma. With the advent of 2-(2-nitro-4 trifluoromethylbenzoyl) -1,3 cyclohexanedione, the outcome of hereditary tyrosinaemia type I has significantly improved; however this treatment is very expensive. For early diagnosis of hereditary tyrosinaemia type I, a high index of suspicion is required in children presenting with hepatomegaly, significantly raised alpha-fetoprotein and multiple focal hepatic masses. Children with untreated disease often succumb to the illness within the first 2 years of life.

Original languageEnglish
Pages (from-to)1044-1046
Number of pages3
JournalJournal of the Pakistan Medical Association
Issue number8
Publication statusPublished - Aug 2013


  • Focal hepatic lesion
  • Pakistani children
  • Tyrosinaemia type I


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