OBJECTIVE: 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 .