Glucose 6- Phosphate dehydrogenase deficiency associated with neonatal jaundice

ABSTRACT

Glucose-6 Phosphate Dehydrogenase [G-6PD] deficiency is the commonest enzymopathy in human beings. It is transmitted as X-linked recessive disorder. Acute hemolytic crisis is the most common presentation of G-6PD deficiency, but in neonatal period it usually presents as jaundice. To find out the proportion of G-6PD deficiency cases in patients with neonatal pathological hyperbilirubinemia and study the clinical course of disease. The study was conducted at the neonatal unit of The Children's Hospital and Institute of Child Health, Lahore from January 2000 - April 2001. One hundred jaundiced neonates with unconjugated hyperbilirubinemia in pathologic range [peak serum bilirubin more than 12 mg/dl in full term and more than 15 mg/dl in preterm neonates] were included. Screening for G-6PD deficiency was done by dye decolorization test, which is semi quantitative, visual colorimetric assay. Out of 100 study cases, 62% were male and 38% were female. 10% of the cases were found to be G-6PD deficient; all were male. One case of G-6PD deficiency developed jaundice during first 24 hrs of life, 8 cases between 1 -7 days and one case after 7 days of life. Peak serum bilirubin levels in neonates with G-6PD deficiency were < 20 mg/dl in 2 cases, 20-30 mg/dl in 6 cases and >30 mg/dl in 2 cases. Evidence of hemolysis [reticulocyte count >5% and Hb% <12.5 gm%] was present in two neonates. In the G-6PD deficiency group, 40% of the cases underwent exchange transfusion compared to 26.6% of cases in the G-6PD normal group. One neonate with G-6PD deficiency had kernicterus at admission. Two neonates with G-6PD deficiency died, due to culture proven sepsis. G-6PD assay should be included in all jaundiced neonates with unexplained neonatal unconjugated pathological hyperbilirubinemia. G-6PD deficiency associated neonatal jaundice is not only hemolytic in origin, but is also related to the impairment of hepatic bilirubin conjugation and excretion