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Published on: June 9, 2018
Tyrosinemia type I--diagnostic issues and prenatal diagnosis
Sunita Bijarnia1, Ratna D Puri, Jean Ruel
1Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
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.
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