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International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
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Abstract
Title
FRUCTOSEMIA WITH AN EARLY ONSET AND ATYPICAL PRESENTATION– A CLINICAL CASE REPORT
Author
Swati Bhattacharyya1, Mousumi Mukhopadhyay2, Sanghamitra chakraborty3, Sayari Banerjee4
Email
drsanghamitra84@gmail.com
keyword
Hereditary fructose intolerance, Fructosemia, Aldolase B, Fructose.
Abstract
Fructosemia is an inborn error of fructose metabolism inherited as autosomal recessive disease due to absence of intestinal or liver enzyme aldolase B. The patients present with symptoms like hypoglycemia, failure to thrive, hemorrhage, jaundice, vomiting and seldom with liver and renal failure. Until date, very few such cases have been reported worldwide. We report a rare case of hereditary fructose intolerance born of non- consanguineous marriage diagnosed during laboratory investigation of an infant admitted with bleeding diathesis in a tertiary health care centre of West Bengal.
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