Glucose-6-phosphate dehydrogenase deficiency screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2]
Overview
G6PD defeciency screening in neonates is done routinly in some regions with high incidence.
Screening
- G6PD defeciency screening in neonates is done routinly in some regions with high incidence. [1]
- Screening test
- Quantitative laboratory assay for G6PD enzyme activity
- A number of screening tests are available for G6PD deficiency [85]. These assays all work by assaying the normal function of the enzyme, reduction of NADP (nicotinamide adenine dinucleotide phosphate) to NADPH (figure 2), which is the initial step in the hexose monophosphate (HMP, also called pentose phosphate) shunt. For the most part these tests are semiquantitative. Thus, if positive they typically should be followed by a quantitative confirmatory test. (See 'Confirmatory tests' below.)
- Screening is done before giving oxidant medication to high risk patients.
- There is insufficient evidence to recommend routine screening for G6PD deficiency.
References
- ↑ Kaplan M, Hammerman C (February 2009). "The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective". J Perinatol. 29 Suppl 1: S46–52. doi:10.1038/jp.2008.216. PMID 19177059.