Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Neonates Presenting with Jaundice at Tertiary Care Hospital Sukkur

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most important disease of the hexose monophosphate pathway. G6PD is an X-linked recessive enzymopathy that is a well-known cause of hyperbilirubinemia that may be severe enough to cause kernicterus, or death in neonates. Early detection of this enzymopathy and close surveillance of the affected newborns may be important in reducing the risk of severe hyperbilirubinemia. This emphasizes the necessity of neonatal screening of G6PD deficiency.

Objective: To detect the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates presenting with Jaundice.

Study design: Retrospective study.

Place and duration of Study: This study was conducted at Paediatric department of Ghulam Muhammad Mahar Medical College Hospital (GMMMCH), Sukkur from March 2011 to June 2012.

Materials and Methods: This retrospective study was conducted in paediatric department of GMMMCH, Sukkur from March 2011 to June 2012. Two hundred forty cases of neonatal Jaundice of both sexes admitted to hospital were enrolled in the study. Detailed history and clinical examination was recorded. All the neonates were subjected to be estimation of serum bilirubin (Total, Direct and Indirect) and G6PD qualitative detection.

Results: Out of 240 icteric neonates, 192 (80%) were males and 48 (20%) were females. Twenty nine (12.1%) neonates were found to be G6PD deficient. The age of presentation of G6PD deficient neonates was between 2^nd to 4^th day of life. In G6PD deficient patients, male to female ratio was 8.7:1. Serum total bilirubin level of 10-40 mg/dl was found in these G6PD deficient neonates.

Conclusion: G6PD deficiency is quite high in neonates presenting with Jaundice. The diagnosis is simple and if left undetected may cause serious consequences in situations of oxidant stress.