Red cell pyruvate kinase deficiency in neonatal jaundice cases in India.
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.


CONCLUSIONS
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.
Kedar
Prabhakar S
PS
Institute of Immunohaematology, Indian Council of Medical Research, K.E.M. Hospital Campus, Parel, Mumbai, India.
Warang
Prashant
P
Colah
Roshan B
RB
Mohanty
Dipika
D
D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007194:India; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000097:blood* / Q000209:etiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000453:epidemiology*; D011770:Pyruvate Kinase / Q000172:deficiency*
D011770:Pyruvate Kinase