Red cell pyruvate kinase deficiency in neonatal jaundice cases in India.
Indian J Pediatr
; 2006 Nov; 73(11): 985-8
Article
in En
| IMSEAR
| ID: sea-79352
ABSTRACT
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 DPGATP 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.
Full text:
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Index:
IMSEAR
Main subject:
Pyruvate Kinase
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Female
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Humans
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Male
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Infant, Newborn
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Erythrocytes
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India
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Jaundice, Neonatal
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Metabolism, Inborn Errors
Country/Region as subject:
Asia
Language:
En
Journal:
Indian J Pediatr
Year:
2006
Type:
Article