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.
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.
Sarma MS, Srivastava A, Yachha SK, et al. Classical galactosemia among Indian children: presentation and outcome from a pediatric gastroenterology center. Indian Pediatr 2016;53(1):27–31. DOI: 10.1007/s13312-016-0784-5
Rubio-Gozalbo ME, Haskovic M, Bosch AM, et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis 2019;14(1):86. DOI: 10.1186/s13023-019-1047-z
Illingworth B. Enzymatic defects as causes of hypoglycemia. Diabetes 1965;14:333–340.
Schwarz V, Golberg L, Komrower GM, et al. Metabolic observations on the erythrocytes from cases of galactosaemia Process Biochem 1955.
Naaz DF, Gulati DR. Comparative study of glucometer and laboratory glucose oxidase method for the estimation of blood glucose levels in neonates. Pediatr Rev: Int J Pediatr Res 2019;6(3):113–117. DOI: 10.17511/IJPR.2019.I03.02
Ho HT, Yeung WK, Young BW. Evaluation of “point of care” devices in the measurement of low blood glucose in neonatal practice. Arch Dis Child Fetal Neonatal Ed 2004;89(4):F356–F359. DOI: 10.1136/adc.2003.033548
Ngerncham S, Piriyanimit S, Kolatat T, et al. Validity of two point of care glucometers in the diagnosis of neonatal hypoglycemia. Indian Pediatr 2012;49(8):621–625. DOI: 10.1007/s13312-012-0133-2
Magera MJ, Gunawardena ND, Hahn SH, et al. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab 2006;88(1):16–21. DOI: 10.1016/j.ymgme.2005.12.005
Beutler E, Baluda MC. Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes. Clin Chim Acta 1966;13(3):369–379. DOI: 10.1016/0009-8981(66)90217-8
Copenhaver JH, Bausch LC, Fitzgibbons JF. A fluorometric procedure for estimation of galactose-1-phosphate uridylyltransferase activity in red blood cells. Anal Biochem 1969;30(3):327–338. DOI: 10.1016/0003-2697(69)90125-0
Elsas LJ 2nd, Lai K. The molecular biology of galactosemia. Genet Med 1998;1(1):40–48. DOI: 10.1097/00125817-199811000-00009
Singh R, Thapa BR, Kaur G, et al. Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications. Clin Chim Acta 2012;414:191–196. DOI: 10.1016/j.cca.2012.09.017
Goldfarb D, Chakraborty P. Case 2: newborn with jaundice and “hyperglycemia”. Paediatr Child Health 2006;11(10):675–678. DOI: 10.1093/pch/11.10.675a
Saxena A, Mittal S. Limitation of portable glucose meters. Indian Pediatr 2009;46(10):911–912.
Newman JD, Ramsden CA, Balazs ND. Monitoring neonatal hypoglycemia with the Accu-chek Advantage II glucose meter: the cautionary tale of galactosemia. Clin Chem 2002;48(11):2071. DOI: 10.1093/clinchem/48.11.2071
