Abstract
A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed midly 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.
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Bijarnia, S., Puri, R.D., Ruel, J. et al. Tyrosinemia type I—Diagnostic issues and prenatal diagnosis. Indian J Pediatr 73, 163–165 (2006). https://doi.org/10.1007/BF02820214
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DOI: https://doi.org/10.1007/BF02820214