2016
DOI: 10.3390/ijms17122069
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Abstract: Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute … Show more

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Cited by 159 publications
(135 citation statements)
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“…In this regard, we have reported more than 186 mutations [4] which were updated to about 220 by Gomez-Manzo et al [5]. The clinical impact of such mutations is variable and includes either symptomatic or asymptomatic patients who display haemolytic crisis triggered by the assumption of oxidant substances, and asymptomatic subjects resistant to the effect of such stressors.…”
Section: To the Editormentioning
confidence: 96%
“…In this regard, we have reported more than 186 mutations [4] which were updated to about 220 by Gomez-Manzo et al [5]. The clinical impact of such mutations is variable and includes either symptomatic or asymptomatic patients who display haemolytic crisis triggered by the assumption of oxidant substances, and asymptomatic subjects resistant to the effect of such stressors.…”
Section: To the Editormentioning
confidence: 96%
“…G6PD deficiency is genetically heterogeneous with 217 mutations reported, which have been mainly found in the coding regions and are buried in the enzyme, producing functionally-deficient G6PD variants [2]. This enzymopathy is usually diagnosed and classified through hematological studies and classified based on the level of G6PD enzymatic activity in red blood cells.…”
Section: Introductionmentioning
confidence: 99%
“…7 While misclassification of diabetes status at the population level was largely driven by the common G6PD variant, rs10105828, and not the rare rs76723693 variant (0.5% of the AA population), in this era of precision medicine there is a growing need for clinical practice to account for the impact of rare genetic variants with clinically meaningful effects on routinely performed diagnostic tests even if the proportion of carriers in the population is small. We also predict that other G6PD deficiency variants, particularly common in African, Mediterranean and Asian populations, 36 will impact HbA1c’s utility as a diagnostic measure. Until genetic information is universally accessible to adjust diagnostic thresholds of imperfect biomarkers, our findings support current clinical practice guidelines by the American Diabetes Association which recommends the use of both FG and HbA1c in combination for diabetes diagnosis, especially given that the diagnostic level of HbA1c is conservative relative to FG.…”
Section: Discussionmentioning
confidence: 96%