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.

journal_name

Indian J Pediatr

authors

Bijarnia S,Puri RD,Ruel J,Gray GF,Jenkinson L,Verma IC

doi

10.1007/BF02820214

keywords:

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

163-5

issue

2

eissn

0019-5456

issn

0973-7693

journal_volume

73

pub_type

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