title: Tyrosinemia type I--diagnostic issues and prenatal diagnosis.
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.
authors.affiliation: Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Sunita
authors.initials: S
authors.lastname: Bijarnia
authors.forename: Ratna D
authors.initials: RD
authors.lastname: Puri
authors.forename: Jean
authors.initials: J
authors.lastname: Ruel
authors.forename: George F
authors.initials: GF
authors.lastname: Gray
authors.forename: Linda
authors.initials: L
authors.lastname: Jenkinson
authors.forename: Ishwar C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D003241:Consanguinity; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020176:Tyrosinemias / Q000175:diagnosis* / Q000235:genetics