Tyrosinemia type I--diagnostic issues and prenatal diagnosis.
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Date
2006-02-04
Authors
Bijarnia, Sunita
Puri, Ratna D
Ruel, Jean
Gray, George F
Jenkinson, Linda
Verma, Ishwar C
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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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Bijarnia S, Puri RD, Ruel J, Gray GF, Jenkinson L, Verma IC. Tyrosinemia type I--diagnostic issues and prenatal diagnosis. Indian Journal of Pediatrics. 2006 Feb; 73(2): 163-5