Search Results (76)

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the world’s most prevalent X-linked enzymopathy, yet public literacy regarding its inheritance, haemolytic triggers, and preventive actions remains inadequate in many high-risk populations. This study assessed public knowledge, attitudes, and preventive practices toward G6PD deficiency among adults in Al-Kharj, Saudi Arabia, a region reporting haemoglobinopathy burden and a recent expansion of national newborn screening. Materials and Methods: A community-based cross-sectional survey was administered between May and September 2025 using a bilingual, self-administered questionnaire. A total of 1104 adults (≥18 years) were recruited through convenience and snowball sampling. Knowledge was scored using 13 dichotomous factual items, and findings are reported as proportions with corresponding 95% confidence intervals. Results: Participants were predominantly female (57%) and university-educated (34.2%). Although 58.5% had heard of “fava bean anaemia”, only 38% recognised the X-linked mode of inheritance and 36.1% identified medication-induced haemolysis, despite 61.8% correctly linking fava beans to haemolytic risk. The mean knowledge score across items was 34.4%. Preventive practices were limited: 41.5% reported premarital medical consultation, and only 21.6% had undergone genetic assessment. Conclusions: Despite national advances in newborn screening, substantial public knowledge deficits and low engagement with preventive practices persist. Strengthened community-level education, particularly regarding inheritance, medication safety, and proactive screening, may reduce preventable haemolysis events. Integrating G6PD-targeted messaging within premarital, antenatal, and primary-care services may support long-term preventive health objectives. Full article

Background: Familial hypercholesterolemia (FH) is a monogenic disorder causing markedly elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerosis. Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in antioxidant defense via NADPH production. G6PD deficiency, an X-linked disorder impairing redox homeostasis, may contribute to cardiovascular disease (CVD) risk. This study examined whether G6PD deficiency increases CVD risk in FH patients. Methods: We retrospectively analyzed 217 FH patients. Clinical data included demographics, lipid profiles, G6PD status, and atherosclerotic CVD outcomes (coronary, cerebrovascular, or peripheral arterial disease). In a subset, FH was confirmed by LDLR gene sequencing, and G6PD Mediterranean and Seattle variants were genotyped. Cumulative CVD prevalence was compared between G6PD-deficient and G6PD-normal FH patients. Multivariable logistic regression was adjusted for age, sex, body mass index, high blood pressure, and smoking. Results: Participants (mean age 47 years, 60% female) had markedly elevated LDL-C (mean 292 mg/dL at diagnosis). Atherosclerotic CVD was present in 119 (55%) patients. G6PD-deficient FH patients had a significantly higher CVD prevalence than those with normal G6PD activity (77.4% vs. 39.8%, p < 0.0001). LDL-C levels were higher in the G6PD-deficient group than in the non-deficient group, and this difference reached statistical significance in the univariate analysis. In the multivariable analysis, G6PD deficiency remained an independent CVD predictor (adjusted OR 3.57, 95% CI 1.30–9.83) after controlling for conventional risk factors. Conclusions: In FH, hereditary G6PD deficiency is associated with a markedly increased risk of atherosclerotic CVD. A pro-oxidative state in G6PD-deficient FH patients may play a role in premature atherogenesis. G6PD status may represent a cardiovascular risk modifier in FH, warranting further research into underlying mechanisms and targeted management. Full article

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzymopathy with significant clinical implications, particularly in malaria-endemic regions and in the management of neonatal hyperbilirubinemia. Timely and accurate detection of G6PD deficiency is critical to prevent life-threatening hemolytic events following oxidative drug administration. This study evaluated the MyG6PD device, a quantitative point-of-care (PoC) tool, for the assessment of hemoglobin concentration and G6PD enzyme activity. Analytical performance was benchmarked against laboratory spectrophotometry and the STANDARD G6PD Analyzer™ (SD Biosensor; Suwon-si, Republic of Korea). MyG6PD demonstrated excellent linearity (R² ≥ 0.99), accuracy (bias < ±15%), and precision (CV < 15%) across normal, intermediate, and deficient activity ranges, including heterozygous females with intermediate phenotypes. The device’s compact, battery-operated design, rapid turnaround, and minimal training requirements support its use in decentralized and resource-limited settings. Furthermore, cost-effective consumables and robust detection of intermediate activity highlight its potential for large-scale deployment. Overall, MyG6PD provides a reliable, accessible, and clinically actionable solution for urgent G6PD deficiency screening, enabling safer administration of oxidative therapies and improving patient outcomes in high-risk populations. Full article

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a widespread enzymopathy affecting approximately 500 million individuals that represents a significant global health issue. Among the more than 230 identified mutations in the G6PD gene, six class A variants—G6PD Utrecht (Pro409Ser), G6PD Suwalki (Pro409Arg), G6PD Merlo (Pro409Gln), G6PD Kawasaki (Gly410Ala), G6PD Shinagawa (Gly410Asp), and G6PD Riverside (Gly410Cys)—are located in the beta-loop near the NADP⁺ binding site. These mutations are of particular interest due to their association with severe hematologic phenotypes, including chronic hemolytic anemia, as well as their proposed role in the allosteric regulation of G6PD multimerization. This study presents a comprehensive biochemical and functional characterization of these clinically relevant G6PD variants. The variant enzymes were cloned, expressed, and purified for characterization. Kinetic parameters and thermal stability assays, complemented by molecular dynamics simulations (MDS), were employed to elucidate the structural impacts of the mutations. Our results demonstrate that these mutations significantly impair protein function, characterized by reduced affinity for glucose-6-phosphate (G6P) and NADP⁺, as well as altered thermal stability compared with wild-type G6PD. MDS revealed that point mutations in the βN- and βM-sheets in the NADP⁺_s region propagate subtle conformational changes, ultimately affecting the NADP⁺c region and the G6P binding cavity. Furthermore, secondary structure element analyses of the simulation data showed that Pro409 and Gly410 point mutations propagate several changes around residues 195–210 (G6P binding site) and 380–400 (NADP⁺_s), explaining their effect on overall catalytic performance. These findings enhance our understanding of the molecular mechanisms underlying G6PD deficiency and its clinical implications, providing a foundation for future therapeutic strategies aimed at mitigating the effects of these variants. Full article

Autism spectrum disorder (ASD) is a complex neurodevelopmental disease of multifactorial etiologies, manifesting as persistent challenges in social interactions, restrictive interests, and repetitive behaviors. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy affecting red blood cell function. Although G6PD enzyme deficiency is known for its role in hemolytic anemia, emerging studies have suggested a potential association between G6PD deficiency and neurodegenerative and neurodevelopmental disorders, including autism. This narrative review explores the possible connection between G6PD deficiency and autism by analyzing relevant literature from the PubMed and Scopus databases. Current evidence points to plausible biological links, particularly oxidative stress and folate metabolism, warranting further investigation into G6PD deficiency as a potential risk modifier in ASD. Moreover, further research is necessary to elucidate the nature of this relationship and its implications for clinical practice. Full article

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymatic disorder, affects over 500 million people worldwide and is often linked to exercise intolerance due to oxidative stress, but its true impact on physical performance remains unclear. This study aimed to evaluate the physiological and metabolic effects of G6PD deficiency on endurance capacity. Using humanized mice carrying the African G6PD variant [V68M; N126D] (hG6PD_A−), we show that despite reduced pentose phosphate pathway activity, these mice exhibit a 10.8% increase in treadmill critical speed (CS)—suggesting enhanced endurance capacity. Multi-omics profiling across red blood cells, plasma, skeletal muscle, spleen, kidney, and liver reveals metabolic adaptations, including elevated glycolysis, fatty acid oxidation, and increased mitochondrial activity, alongside heightened oxidative phosphorylation in muscle and accelerated red blood cell turnover in the spleen and liver. These findings indicate that systemic metabolic reprogramming may offset antioxidant deficiencies, potentially conferring a performance advantage. Given that G6PD deficiency affects up to 13% of African Americans and is associated with cardiovascular health disparities, our results challenge conventional exercise restrictions and highlight the need for personalized exercise guidelines for affected individuals. Full article

Sub-optimal light environments in controlled agricultural settings often limit the productivity of plants. While LED supplementary lighting has been widely adopted to mitigate light deficiencies, the spatial arrangement of LED light sources remains a critical but under-explored factor affecting plant physiological responses. In this study, we used the affiliation function method to comprehensively analyze the effects of four spatial LED supplementary lighting configurations—top-down lighting (T1), mid-canopy upward lighting (T2), mid-canopy downward lighting (T3), and bottom-up lighting (T4)—on the growth and photosynthetic performance of tomato plants. Our findings reveal that the T1 treatment significantly increased light absorption in the upper and middle leaves, enhanced photosynthetic efficiency, promoted the CO₂ assimilation rate, and elevated the activities of key Calvin cycle enzymes, including ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco), fructose-1,6-bisphosphatase (FBPase), transketolase (TK), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), and fructose-1,6-bisphosphate aldolase (FBA). These changes led to improved carbohydrate metabolism and biomass accumulation. Additionally, the T4 treatment markedly enhanced photosynthetic activity in the lower leaves, increasing sugar metabolism-related enzyme activities, such as sucrose synthase (SS), sucrose phosphate synthase (SPS), acid invertase (AI), and neutral invertase (NI). Consequently, compared with the CK treatment, the T4 treatment significantly increased the accumulation of glucose, fructose, and sucrose, with increases of 47.36%, 27.61%, and 87.21%, respectively. Furthermore, LED supplementation regulated endogenous hormone levels, thereby promoting overall plant growth. This study highlights the importance of the spatial arrangement of LEDs in optimizing light distribution and enhancing plant productivity, providing valuable theoretical and practical insights for improving agricultural practices in controlled environments. Full article

Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns’ health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco. This study aimed to demonstrate the feasibility of integrating NBS into a diagnostic laboratory for routine analysis. Six primary severe conditions were included: congenital hypothyroidism (CH), cystic fibrosis (CF), phenylketonuria (PKU), glucose-6-phosphate dehydrogenase deficiency (G6PD), congenital adrenal hyperplasia (CAH), and hemoglobinopathies. Methods: A retrospective investigation was carried out to examine the outcomes of NBS in Casablanca, Morocco. A total of 5511 newborn blood samples were collected via heel-prick sampling and tested for the above disorders. Most of the samples were collected within the third and sixth days of birth. The dried blood spots were analyzed via a quantitative immunofluorescence technique and isoelectric focusing. Results: A total of 72 newborns had one of the six pathological conditions. The most prevalent disorders were hemoglobinopathies, which were identified in 47 newborns (0.9%), with 29 having HbC carrier status (0.5%), 15 having Hb S carrier status (0.3%), and 3 having an Hb Bart’s carrier profile (0.05%). This was followed by G6PD deficiency, which was found to affect 16 newborns (0.32% of cases). CF was found in one case (0.02%), whereas five newborns (0.09%) tested positive for CAH. Additionally, two newborns (0.04%) tested positive for CH, and one newborn tested positive for PKU (0.02%). Conclusion: Our findings underscore the importance and success of NBS programs in preventing morbidity and mortality and improving the quality of life of affected neonates. The significant gap in data and research on these disorders within the Moroccan population highlights the urgent need to integrate NBS into routine practice in diagnostic laboratories across Morocco. This integration is crucial for enhancing the health and well-being of Moroccan newborns. Full article

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy that affects approximately 500 million people worldwide. A great number of mutations in the G6PD gene have been described. However, three class A G6PD variants known as G6PD Tomah (C385R), G6PD Kangnam (C385G), and G6PD Madrid (C385W) have been reported to be clinically important due to their associations with severe clinical manifestations such as hemolytic anemia. Therefore, this work aimed to perform, for the first time, biochemical and functional characterizations of these variants. The G6PD variants were cloned and purified for this purpose, followed by analyses of their kinetic parameters and thermal stability, as well as in silico studies. The results showed that the mutations induced changes in the proteins. Regarding the kinetic parameters, it was observed that the three variants showed lower affinities for G6P and NADP⁺, as well as lower thermal stability compared to WT-G6PD. Molecular dynamics simulations showed that C385 mutations induced changes around neighboring amino acids. Metadynamics simulations showed that most remarkable changes account for the binding pocket volumes, particularly in the structural NADP⁺ binding site, with a concomitant loss of affinity for catalytic processes. Full article

Background: Glucose 6 phosphate dehydrogenase (G6PD) is a rate-limiting enzyme of the pentose phosphate pathway. The loss of G6PD activity in red blood cells increases the risk of acute haemolytic anaemia under oxidative stress induced by infections, some medications, or fava beans. More than 200 single missense mutations are known in the G6PD gene. A 41-year-old woman with a family history of favism coming from the Basilicata region (Italy) was evaluated at our hospital for G6PD abnormalities. Methods: DNA was extracted from a peripheral blood sample and genotyped for the most common G6PD pathogenic variants (PVs). Positive results obtained by Restriction Fragment Length Polymorphism (RFLP), as per practice in our laboratory, were then reconfirmed in Sanger sequencing. Results: RFLP analysis highlighted a variant compatible with the G6PD Cassano variant. Confirmatory testing by Sanger unexpectedly identified a novel variant: c.1357G>A, p.(Val453Met) (NM_001360016.2); the same variant was found in the patient’s mother. In silico models predicted a deleterious effect of this variant at the protein level. The novel G6PD variant was named “G6PD Potenza” on the basis of the patient’s regional origin. Conclusions: This case describes a novel G6PD variant. It also highlights how the Sanger sequencing technique still represents an indispensable confirmatory standard method for variants that could be misinterpreted by only using a “first-level” approach, such as the RFLP. We stress that the evaluation of clinical manifestations in G6PD-deficient patients is of primary importance for the classification of each new G6PD mutation, in agreement with the new WHO guidelines. Full article

Background and Objectives: To evaluate the clinical findings of glucose 6-phosphate dehydrogenase (G6PD) and pyruvate kinase (PK) deficiency in prolonged jaundice and to determine whether the systemic immune inflammation index (SII), neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR) can be used in the diagnosis of neonatal prolonged jaundice. Materials and Methods: Among full-term neonates with hyperbilirubinemia who were admitted to Medicine Hospital between January 2019 and January 2024 with the complaint of jaundice, 167 infants with a serum bilirubin level above 10 mg/dL, whose jaundice persisted after the 10th day, were included in this study. Results: G6PD activity was negatively correlated with NLR, SII, age, and hematocrit (Hct). There was a weak negative correlation between G6PD and NLR and a moderate negative correlation between G6PD activity and SII when adjusted for age and Hct. PK activity showed no significant correlation with G6PD, NLR, PLR, SII, age, and Hct. A linear relationship was observed between G6PD activity and SII and NLR. Conclusions: NLR and SII can be easily calculated in the evaluation of prolonged jaundice in G6PD deficiency has a considerable advantage. NLR and SII levels may contribute by preventing further tests for prolonged jaundice and regulating its treatment. It may be useful to form an opinion in emergencies and in early diagnostic period. Full article

Following the advent of direct-acting antivirals (DAAs), the treatment of hepatitis C virus (HCV) infection is now rarely challenging. However, data are still limited concerning DAA use in patients affected by glucose-6-phosphate dehydrogenase deficiency (G6PDd). Based on these considerations, the goal of this study was to evaluate the effectiveness and safety of DAAs in this subpopulation. A retrospective multicenter observational study (2015–2023) was conducted on all 2754 consecutive HCV-positive patients treated with first- and second-generation all-oral DAAs, and with a G6PDd diagnosis confirmed by quantitative testing (n = 38). At the treating clinician’s discretion, an enhanced clinical and laboratory follow-up was performed, generally on a monthly basis both during treatment and up to six months after the end of it. Concerning hematochemical parameters, no significant differences were found between any considered time point. In all cases, no treatment-related adverse events were reported, and virologic response rates were as expected without G6PDd. In conclusion, in a large experience which, to the best of our knowledge, is unprecedented in the literature, the treatment of HCV hepatitis with nearly all available DAAs in patients with G6PDd as a comorbidity—a common occurrence in countries such as Italy—proved to be highly effective and safe. Full article

Introduction: Pseudoglutamicibacter cumminsii (formerly Arthrobacter cumminsii) is a microorganism rarely reported as a cause of infection. It is a Gram-positive, non-motile, and non-spore-forming bacterium belonging to the Micrococcaceae family. It is known for its environmental ubiquity, being frequently found in soil, water, and other ecological niches. Case report: A 39-year-old woman with a history of glucose-6-phosphate dehydrogenase deficiency and multiple surgeries at the left lower extremity for osteomyelitis at the left tibia presented with a relapse of chronic osteomyelitis of the left tibia. She underwent surgical debridement, and cultures grew Enterococcus faecalis, Pseudomonas aeruginosa, Klebsiella oxytoca, Proteus mirabilis, and Pseudoglutamicibacter cumminsii, according to identification with matrix-assisted laser desorption/ionization-time of flight mass spectrometry. Targeted antimicrobial treatment with ciprofloxacin and amoxicillin-clavulanate for six weeks led to patient recovery. Conclusions: Accurate identification by advanced diagnostic techniques is essential for effectively managing rare pathogens. Further research and reporting of cases are needed to understand better the epidemiology, pathogenesis, optimal treatment, and improved clinical outcomes associated with P. cumminsii infections. Full article

While numerous Fabaceae seeds are a good nutritional source of high-quality protein, the use of some species is hampered by toxic effects caused by exposure to metabolites that accumulate in the seeds. One such species is the faba or broad bean (Vicia faba L.), which accumulates vicine and convicine. These two glycoalkaloids cause favism, the breakdown of red blood cells in persons with a glucose-6-phosphate dehydrogenase deficiency. Because this is the most common enzyme deficiency worldwide, faba bean breeding efforts have focused on developing cultivars with low levels of these alkaloids. Consequently, quantification methods have been developed; however, they quantify vicine and convicine only and not the derivatives of these compounds that potentially generate the same bio-active molecules. Based on the recognition of previously unknown (con)vicine-containing compounds, we screened the fragmentation spectra of LC-MS/MS data from five faba bean cultivars using the characteristic fragments generated by (con)vicine. This resulted in the recognition of more than a hundred derivatives, of which 89 were tentatively identified. (Con)vicine was mainly derivatized through the addition of sugars, hydroxycinnamic acids, and dicarboxylic acids, with a group of compounds composed of two (con)vicine residues linked by dicarboxyl fatty acids. In general, the abundance profiles of the different derivatives in the five cultivars mimicked that of vicine and convicine, but some showed a derivative-specific profile. The description of the (con)vicine diversity will impact the interpretation of future studies on the biosynthesis of (con)vicine, and the content in potentially bio-active alkaloids in faba beans may be higher than that represented by the quantification of vicine and convicine alone. Full article

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in the African American population. We identified eighteen G6PD-deficient samples (9%) in a study of residual, de-identified whole blood specimens from 200 African American pediatric patients using a point-of-care instrument. This highlights the possibility of a rapid time to result for G6PD testing, which can be valuable in some clinical scenarios. Full article