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A CASE REPORT-HEREDITARY TYROSINEMIA TYPE1
Journal: University Journal of Medicine and Medical Specialities (Vol.5, No. 3)Publication Date: 2019-05-30
Authors : VADIVEL S;
Page : 28-29
Keywords : Tyrosinemia type -1; Fumaryl acetoacetate hydroxylase enzyme; Succinylacetone;
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Abstract
A three year old first born female child to a consanguineously married couple, presented with delayed milestones, jaundice, anasarca and anemia. The second child died at 9 months of age with similar complaints. Investigations revealed anaemia, deranged liver functions and generalized aminoaciduria. Ultrasound showed cirrohsis and spleenomegaly. The diagnosis of hereditary tyrosinemia was estabilished on findings of raised Plasma and urinary succinylacetone.
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Last modified: 2019-05-30 18:56:48