Bijarnia, SunitaPuri, Ratna DRuel, JeanGray, George FJenkinson, LindaVerma, Ishwar C2006-02-042009-05-302006-02-042009-05-302006-02-04Bijarnia 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): 163-5http://imsear.searo.who.int/handle/123456789/83314A 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.engConsanguinityFemaleGenetic CounselingHumansInfantMalePregnancyPrenatal DiagnosisTyrosinemias --diagnosisCase Reports