In the neonatal period, a red cell deficiency of glucose-6-phosphate dehydrogenase (G-6-PD) may result in jaundice, the severity of which will vary between patients. Diagnosis of this inborn error of metabolism presents a problem if there is a large number of young enzyme-rich red cells in circulation, and this paper details the technique used to confirm a red cell deficiency of G-6-PD in a neonate.
References
1.
BeutlerE. (1972). The Metabolic Basis of Inherited Disease, 3rd edition, chapter 55, pp. 1358–1388. McGraw-Hill: New York.
2.
CarsonP. E.FlanaganC. L.IckesC. E.AlvingA. S. (1956). Enzymatic deficiency in primaquine-sensitive erythrocytes. Science, 124, 484–489.
3.
DesforgesJ. F. (1976). Genetic implications of G-6-PD deficiency. New England Journal of Medicine, 294, 1438–1440.