Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS

“…Enzyme assay may not always give a definitive answer, regarding carrier status in females (Beutler, 2001) but molecular analysis, although not suitable for mass screening, is an accurate method by which to assess the G6PDH genetic status of females (Mehta et al, 2000;Lin et al, 2005). In our study, 10 out of 15 (66.7%) of females were found to be carriers.…”

Neonatal hyperbilirubinemia in African American males: The importance of glucose-6-phosphate dehydrogenase deficiency

“…Although screening at birth for G-6-PD deficiency is recommended in high-risk populations by the World Health Organization, 15 this procedure has been adopted only to a limited extent in the US. 38 The Subcommittee on Hyperbilirubinemia of the AAP has not recommended screening at birth. 6 Should G-6-PD screening be adopted, biochemical screening tests or quantitative enzyme analysis will be most effective if the results are Table II.…”

Newborn screening for metabolic disorders

“…62 Another example that has been proposed is for the "common" mutations in glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in high-frequency areas. 63 In some disorders, such as MCADD, there is a very frequent mutation (K329E), although many infants identified in newborn screening are compound heterozygotes, often having a second mutation unique to that family. Many disorders have hundreds of mutations, and new ones will continue to arise.…”