Kedar, Prabhakar SWarang, PrashantColah, Roshan BMohanty, Dipika2006-11-282009-05-302006-11-282009-05-302006-11-28Kedar PS, Warang P, Colah RB, Mohanty D. Red cell pyruvate kinase deficiency in neonatal jaundice cases in India. Indian Journal of Pediatrics. 2006 Nov; 73(11): 985-8http://imsear.searo.who.int/handle/123456789/79352OBJECTIVE: Pyruvate Kinase (PK) deficiency is the most common enzymopathy of the glycolytic pathway in erythrocytes. It constitutes one of the common causes of hereditary non-spherocytic hemolytic anemia. The aim of this study was to screen newborns in India for pyruvate kinase (PK) deficiency in relation to unconjugated hyperbilirubinemia. METHODS: Laboratory investigations done included complete blood counts, reticulocyte counts, direct and indirect bilirubin, assay of G6PD and PK activity, ATP and 2,3 DPG levels. All variables were studied in 50-cord blood samples from normal deliveries and 218 neonates with hyperbilirubinemia. RESULTS: 7 of the 218 cases of neonatal jaundice were PK deficient with 30-40% reduction in PK activity. These cases also had a 3-4-fold increase in 2,3 DPG:ATP ratios, which is one of the additional indicators for PK deficiency. Six of the 7 infants had a severe clinical course. CONCLUSION: This study shows that the prevalence of PK deficiency in Indian neonatal jaundice cases is 3.21%, which is relatively high. This emphasizes the need for screening neonatal hyperbilirubinemia cases in India for PK deficiency.engErythrocytes --enzymologyFemaleHumansIndiaInfant, NewbornJaundice, Neonatal --bloodMaleMetabolism, Inborn Errors --bloodPyruvate Kinase --deficiencyJournal Article