Tyrosinemia type I--diagnostic issues and prenatal diagnosis

Indian J Pediatr. 2006 Feb;73(2):163-5. doi: 10.1007/BF02820214.

Abstract

A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of raised serum and urine succinylacetone and a deficient activity of fumaryl acetoacetate hydroxylase enzyme. Prenatal diagnosis of hereditary tyrosinemia was performed in a subsequent pregnancy in this family from India.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Female
  • Genetic Counseling
  • Humans
  • Infant
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Tyrosinemias / diagnosis*
  • Tyrosinemias / genetics