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Enzyme deficiencies in neonates with jaundice
A Casado1, C Casado, E López-Fernández
1Departmento de Fisiopatología y Genetica Molecular Humana, Centro de Investigaciones Biologicas (CSIC), Madrid, Spain.
Insights
Neonatal jaundice can be linked to enzyme deficiencies like Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency. This study investigated the incidence of G6PD, PK, and GSSG-R deficiencies in jaundiced newborns to identify at-risk populations.
Area of Science:
- Biochemistry
- Pediatrics
- Hematology
Background:
- Enzyme deficiencies, particularly those affecting red blood cell oxidative protection, are known causes of hemolysis and hyperbilirubinemia.
- Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a recognized cause of neonatal hyperbilirubinemia across diverse ethnic groups.
Purpose of the Study:
- To determine the incidence of Glucose-6-Phosphate Dehydrogenase (G6PD), Pyruvate Kinase (PK), and Glutathione Disulfide Reductase (GSSG-R) deficiencies in neonates presenting with jaundice.
- To better assess the population at risk for developing neonatal jaundice due to these specific enzyme deficiencies.
Main Methods:
- Analysis of 341 jaundiced neonates of both sexes.
- Screening for deficiencies in key red blood cell enzymes: G6PD, PK, and GSSG-R.
Main Results:
- Identified 47 neonates with G6PD deficiency.
- Detected 9 neonates with PK deficiency.
- Found 2 neonates with GSSG-R deficiency.
Conclusions:
- The study confirms the presence of G6PD, PK, and GSSG-R deficiencies in jaundiced neonates.
- These enzyme deficiencies are implicated in the development of neonatal jaundice, highlighting the need for targeted screening.
Abstract:
Numerous findings have shown that enzyme deficiencies, especially those involved in the protection of red cells from oxidation may lead to hemolysis and hyperbilirubinemia. It is established that G6PD deficiency may be the cause of neonatal hyperbilirubinemia, as has been found in several countries and among widely different ethnic groups. We try to establish the incidence of G6PD, PK and GSSG-R deficiencies in neonates with jaundice for a better assessment of the population at risk. The present investigation was carried out in the attempt to be certain whether these enzymes could play a part in the development of neonatal jaundice. A total of 341 neonates of both sexes with jaundice were analyzed: 47 with G6PD deficiency; 9 with PK deficiency and 2 with GSSG-R deficiency.