Glucose-6-Phosphate Dehydrogenase Deficiency and the Benefits of Early Screening.

Journal Article (Journal Article)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy worldwide, is an insufficient amount of the G6PD enzyme, which is vital to the protection of the erythrocyte. Deficient enzyme levels lead to oxidative damage, hemolysis, and resultant severe hyperbilirubinemia. If not promptly recognized and treated, G6PD deficiency can potentially lead to bilirubin-induced neurologic dysfunction, acute bilirubin encephalopathy, and kernicterus. Glucose-6-phosphate dehydrogenase deficiency is one of the three most common causes for pathologic hyperbilirubinemia. A change in migration patterns and intercultural marriages have created an increased incidence of G6PD deficiency in the United States. Currently, there is no universally mandated metabolic screening or clinical risk assessment tool for G6PD deficiency in the United States. Mandatory universal screening for G6PD deficiency, which includes surveillance and hospital-based risk assessment tools, can identify the at-risk infant and foster early identification, diagnosis, and treatment to eliminate neurotoxicity.

Full Text

Duke Authors

Cited Authors

  • DelFavero, JJ; Jnah, AJ; Newberry, D

Published Date

  • August 2020

Published In

Volume / Issue

  • 39 / 5

Start / End Page

  • 270 - 282

PubMed ID

  • 32879043

Electronic International Standard Serial Number (EISSN)

  • 1539-2880

International Standard Serial Number (ISSN)

  • 0730-0832

Digital Object Identifier (DOI)

  • 10.1891/0730-0832.39.5.270

Language

  • eng