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VOLUME 4 , ISSUE 3 ( July-September, 2022 ) > List of Articles

CASE REPORT

Hyperglycemia in an Infant with Classical Galactosemia: A Blessing in Disguise?

Jayendra Seetharaman, Andrew James Simon, Arul Premanand Lionel

Keywords : Galactosemia, Glucometers, Hyperglycemia, Hypoglycemia, Point of care

Citation Information : Seetharaman J, Simon AJ, Lionel AP. Hyperglycemia in an Infant with Classical Galactosemia: A Blessing in Disguise?. Ann Pediatr Gastroenterol Hepatol 2022; 4 (3):33-35.

DOI: 10.5005/jp-journals-11009-0102A

License: CC BY-NC 4.0

Published Online: 27-09-2022

Copyright Statement:  Copyright © 2022; The Author(s).


Abstract

Galactosemia is an autosomal recessive disorder of galactose metabolism. Classical galactosemia presents in infancy with jaundice, coagulopathy, ascites, failure to thrive, sepsis, cataract, etc. In spite of hypoglycemia being a known complication in sick galactosemic infants, blood glucose estimation at times provides false high glucose values in point - of - care (POC) devices suggestive of hyperglycemia. Though these false values are due to its fallacies in technical aspects of glucose estimation, as it wrongly identifies the elevated galactose levels as glucose levels, the discrepancy between POC and laboratory values of blood glucose in sick neonatal cholestasis helps in arriving at the diagnosis in a resource-limited setting. Here, we describe a galactosemic infant presented with jaundice, ascites, and bilateral cataract. The high blood glucose levels (200–300 mg/dL) in POC devices were documented at the time of admission. However, the corresponding laboratory venous blood glucose levels were low (50–70 mg/dL). These high blood glucose values in POC devices gradually lowered after a lactose-free diet was introduced.


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