6,180 results match your criteria Glucose-6-Phosphate Dehydrogenase Deficiency


Clinician's Corner: Anemia at Altitude-Thalassemia, Sickle Cell Disease, and Other Inherited Anemias.

High Alt Med Biol 2021 May 4. Epub 2021 May 4.

Division of Hematology/Medical Oncology, Department of Medicine, Oregon Health and Science University, Portland, Oregon, USA.

DeLoughery, Thomas G. Clinician's corner: anemia at altitude-thalassemia, sickle cell disease, and other inherited anemias. 00:000-000, 2021. Read More

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Tafenoquine is a Promising Drug Candidate for the Treatment of Babesiosis.

Antimicrob Agents Chemother 2021 May 3. Epub 2021 May 3.

National Research Center for Protozoan Diseases, Obihiro University of Agriculture and Veterinary Medicine, Inada-cho, Obihiro, Hokkaido 080-8555, Japan

Due to drug resistance, commonly used anti- drugs have limited efficacy against babesiosis, and inflict severe side effects. Tafenoquine (TAF) was approved by the U.S. Read More

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Association of alpha-thalassemia and Glucose-6-Phosphate Dehydrogenase deficiency with transcranial Doppler ultrasonography in Nigerian children with sickle cell anemia.

J Clin Lab Anal 2021 May 3:e23802. Epub 2021 May 3.

Department of Molecular Biology and Biotechnology, Nigerian Institute of Medical Research, Lagos, Nigeria.

Background: Stroke is a devastating complication of sickle cell anemia (SCA) and can be predicted through abnormally high cerebral blood flow velocity using transcranial Doppler Ultrasonography (TCD). The evidence on the role of alpha-thalassemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the development of stroke in children with SCA is conflicting. Thus, this study investigated the association of alpha-thalassemia and G6PD(A ) variant with abnormal TCD velocities among Nigerian children with SCA. Read More

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Anemia-induced liver injury: A rare case revealing glucose-6-phosphate dehydrogenase deficiency.

Clin Case Rep 2021 Apr 15;9(4):2442-2444. Epub 2021 Mar 15.

Department of Hepato-Gastroenterology Charles Nicolle Hospital Tunis Tunisia.

Hypoxic hepatitis may occur due to hemodynamic mechanisms of hypoxia secondary to anemia without any context of reduced blood flow, respiratory failure, or shock state. Etiology of anemia should be investigated in order to avoid recurrence. Read More

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Estimated impact of tafenoquine for Plasmodium vivax control and elimination in Brazil: A modelling study.

PLoS Med 2021 Apr 23;18(4):e1003535. Epub 2021 Apr 23.

Malaria: Parasites and Hosts, Department of Parasites and Insect Vectors, Institut Pasteur, Paris, France.

Background: Despite recent intensification of control measures, Plasmodium vivax poses a major challenge for malaria elimination efforts. Liver-stage hypnozoite parasites that cause relapsing infections can be cleared with primaquine; however, poor treatment adherence undermines drug effectiveness. Tafenoquine, a new single-dose treatment, offers an alternative option for preventing relapses and reducing transmission. Read More

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Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots.

Clin Biochem 2021 Apr 18. Epub 2021 Apr 18.

Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, 200092, China; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China. Electronic address:

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited disease. Current neonatal screening methods for G6PD deficiency primarily rely on the use of biochemical tests. However, only 15%-20% of female carriers were estimated to have been detected using these tests. Read More

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Acute lung injury after exchange transfusion in two newborns with Glucose-6-phosphate dehydrogenase deficiency.

Transfus Apher Sci 2021 Apr 6:103133. Epub 2021 Apr 6.

Department of Pediatrics, Division of Neonatology, Marmara University Faculty of Medicine, İstanbul, Turkey. Electronic address:

Transfusion-related lung injury (TRALI) is a condition that develops suddenly within the first six hours after a blood transfusion and it is one of the most important causes of blood transfusion-related mortality. There are few data in the literature about TRALI in the neonatal period. We present two newborn patients who developed TRALI after exchange transfusion due to high bilirubin levels. Read More

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[Methemoglobinemia caused by dapsone. Report of one case].

Rev Med Chil 2020 Dec;148(12):1838-1843

Escuela de Medicina, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Methemoglobinemia is a rare condition with serious consequences if not diagnosed. We report the case of a 64-year-old woman with a history of allergy to sulfa drugs and a recent diagnosis of a small vessel vasculitis (ANCA-p) who started induction therapy with corticosteroids and rituximab. Due to the need for infectious prophylaxis, and considering her history, dapsone was administered instead of cotrimoxazole after ruling out glucose-6-phosphate dehydrogenase deficiency. Read More

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December 2020

Bottom-up analysis of emergent properties of N-acetylcysteine as an adjuvant therapy for COVID-19.

World J Virol 2021 Mar;10(2):34-52

Division of Research and Academic Affairs, Larkin Health System, South Miami, FL 33143, United States.

N-acetylcysteine (NAC) is an abundantly available antioxidant with a wide range of antidotal properties currently best studied for its use in treating acetaminophen overdose. It has a robustly established safety profile with easily tolerated side effects and presents the Food and Drug Administration's approval for use in treating acetaminophen overdose patients. It has been proven efficacious in off-label uses, such as in respiratory diseases, heart disease, cancer, human immunodeficiency virus infection, and seasonal influenza. Read More

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Prevalence of G6PD deficiency in Iranian neonates with jaundice: a systematic review and meta-analysis.

J Matern Fetal Neonatal Med 2021 Mar 15:1-8. Epub 2021 Mar 15.

Children Growth Research Center, Research Institute for Prevention of Non-Communicable Diseases, Qazvin University of Medical Sciences, Qazvin, Iran.

Objectives: This systematic review and meta-analysis study aimed to estimate the overall prevalence of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates with jaundice who were admitted to hospitals in Iran.

Materials And Methods: In this systematic review and meta-analysis, we searched PubMed/Medline, Scopus, ISI Web of Sciences, and Iranian Local databases up to December 2019.We calculated Prevalence and 95% Confidence Interval (95% CI) of G6PD deficiency as summary measures. Read More

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Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C.

Ann Transl Med 2021 Feb;9(3):194

Center of Clinical Molecular Medicine & Newborn Screening Center, Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders (Chongqing), China International Science and Technology Cooperation base of Child development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disease caused by pathogenic mutations of . While most of the pathogenic variants of have been annotated, hemolysis of unknown etiology but analogous to that in G6PD deficiency persists, implying the existence of undocumented pathogenic variants. In our previous study, we reported four novel variants in China, for which the pathogenicity remains to be verified. Read More

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February 2021

Evaluating the effect of ursodeoxycholic acid on total bilirubin of neonates with glucose-6-phosphate dehydrogenase deficiency complicated by indirect hyperbilirubinaemia.

J Paediatr Child Health 2021 Mar 8. Epub 2021 Mar 8.

Department of Family medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Aim: This study aimed to investigate the effect of adding ursodeoxycholic acid (UDCA) to phototherapy in neonates with glucose-6-phosphate dehydrogenase (G6PD) deficiency and hyperbilirubinaemia. G6PD deficiency is a common cause of severe hyperbilirubinaemia in neonates.

Methods: This study was a triple blind, clinical trial study of 40 neonates with G6PD deficiency and hyperbilirubinaemia who admitted for phototherapy in hospitals affiliated to the University of Medical Sciences. Read More

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Therapeutic Intervention of COVID-19 by Natural Products: A Population-Specific Survey Directed Approach.

Molecules 2021 02 23;26(4). Epub 2021 Feb 23.

National Center for Natural Product Research, Research Institute of Pharmaceutical Sciences, School of Pharmacy, University of Mississippi, Oxford, MS 38677, USA.

To date very few promising leads from natural products (NP) secondary metabolites with antiviral and immunomodulatory properties have been identified for promising/potential intervention for COVID-19. Using in-silico docking studies and genome based various molecular targets, and their in vitro anti-SARS CoV-2 activities against whole cell and/or selected protein targets, we select a few compounds of interest, which can be used as potential leads to counteract effects of uncontrolled innate immune responses, in particular those related to the cytokine storm. A critical factor for prevention and treatment of SARS-CoV-2 infection relates to factors independent of viral infection or host response. Read More

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February 2021

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.

Orphanet J Rare Dis 2021 02 26;16(1):103. Epub 2021 Feb 26.

UGN, Instituto de Investigaciones Biomédicas, UNAM-LEIMyT, Instituto Nacional de Pediatría SS, CDMX, Mexico.

Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural history. Herein, we describe the early natural clinical course and the underlying GDPD genotypes in infants with G6PDd detected by newborn screening and later studied in a single follow-up center. G6PDd newborns were categorized into three groups: group 1: hospitalized with or without neonatal jaundice (NNJ); group 2: non-hospitalized with NNJ; and group 3: asymptomatic. Read More

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February 2021

Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States.

J Matern Fetal Neonatal Med 2021 Feb 24:1-9. Epub 2021 Feb 24.

Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford Children's Health, Stanford University School of Medicine, Stanford, CA, USA.

Background And Objectives: Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is frequent inherited enzymopathy that poses potentially preventable risk for extreme hyperbilirubinemia (EHB) which can, rarely, lead to acute bilirubin encephalopathy, childhood kernicterus and death. We aimed to estimate quality adjusted life years (QALY) lost due to G6PD deficiency associated with EHB and economic costs to best estimate value of universal pre-discharge screening.

Methods: We did a cost utility analysis for US birth cohort utilizing pre-discharge screening decision tree model to estimate population burden and EHB outcomes, based on literature search and expert opinions. Read More

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February 2021

Glucose-6-phosphate dehydrogenase deficiency and hydroxychloroquine in the COVID-19 era: a mini review.

Mol Biol Rep 2021 Mar 23;48(3):2973-2978. Epub 2021 Feb 23.

Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

The coronavirus disease 2019 (COVID-19) is until today a global health emergency. In an immense effort, effective drugs against COVID-19 are searched and intensive researches on possible repurposing of antiviral agents are performed. Since chloroquine (CQ) and hydroxychloroquine (HCQ) have shown in vitro anti- COVID-19 activities, the potential effect of CQ/HCQ to treat and/or prevent COVID-19 infection has caused global attention. Read More

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The integrity and stability of specimens under different storage conditions for glucose-6-phosphate dehydrogenase deficiency screening using WST-8.

Acta Trop 2021 May 16;217:105864. Epub 2021 Feb 16.

Department of Molecular Tropical Medicine and Genetics, Faculty of Tropical Medicine, Mahidol University, Bangkok 10400 Thailand. Electronic address:

Accurate measurement of glucose-6-phosphate dehydrogenase (G6PD) activity is critical for malaria treatment as misclassification of G6PD deficiency could cause serious harm to patients. G6PD activity should be assessed in blood samples on the day of collection. Otherwise, specimens should be stored under suitable conditions to prevent loss of G6PD activity. Read More

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Autism: Screening of inborn errors of metabolism and unexpected results.

Autism Res 2021 May 19;14(5):887-896. Epub 2021 Feb 19.

Department of Pediatric and Adolescent Mental Health and Diseases, Gazi University School of Medicine, Ankara, Turkey.

In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital records of 247 patients who were referred from pediatric psychiatric to pediatric metabolism outpatient clinics due to further evaluation of autism spectrum disorders (ASD) were examined. Among them, 237 patients were evaluated for IEM leading to ASDs. Read More

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Towards one standard treatment for uncomplicated Plasmodium falciparum and Plasmodium vivax malaria: Perspectives from and for the Peruvian Amazon.

Int J Infect Dis 2021 Apr 15;105:293-297. Epub 2021 Feb 15.

Global Health Institute, University of Antwerp, Antwerp, Belgium. Electronic address:

Malaria continues to wreak havoc in the Peruvian Amazon. Lengthy research efforts have brought important lessons on its particular epidemiology: the heterogeneous levels of transmission, the large reservoir of both asymptomatic and submicroscopic infections, the co-transmission of Plasmodium vivax and Plasmodium falciparum in the same areas, and the limitations of current diagnostics. Based on these features, the national elimination program could greatly benefit from simplified standard treatment, with the use of artemisinin-based combination therapy and even shorter schemes of primaquine maintaing the total dosing. Read More

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Universal Implementation of Newborn Screening in India.

Authors:
Thomas Mookken

Int J Neonatal Screen 2020 Mar 25;6(2). Epub 2020 Mar 25.

NeoGen Labs, UCF Center, 84/3 Oil Mill Road, Lingararajpuram, Bengaluru 560 084, Karnataka, India.

Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Read More

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A greater awareness of children with glucose-6-phosphate dehydrogenase deficiency is imperative in western countries.

Acta Paediatr 2021 Feb 9. Epub 2021 Feb 9.

Department of Paediatrics, The North Denmark Region Hospital, Hjørring, Denmark.

Aim: This national retrospective Danish study described the characteristics of children diagnosed with glucose-6-phosphate dehydrogenase (G6PD) deficiency, an inherited X-linked recessive disorder that often affects children of Middle Eastern descent.

Methods: We studied children born between 1 January 2000 and 31 December 2017 and diagnosed with G6PD deficiency. They were identified from the Danish National Hospital Discharge Register and the Danish Database of Extreme Neonatal Hyperbilirubinaemia. Read More

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February 2021

Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency against malaria.

Elife 2021 Feb 5;10. Epub 2021 Feb 5.

Mahidol Oxford Tropical Medicine Research Unit (MORU), Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.

X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The severe Mediterranean variant (G6PD Med) found across Europe and Asia is thought to confer protection against malaria, but its effect is unclear. We fitted a Bayesian statistical model to observed G6PD Med allele frequencies in 999 Pashtun patients presenting with acute malaria and 1408 population controls. Read More

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February 2021

Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.

Sci Rep 2021 Feb 3;11(1):2956. Epub 2021 Feb 3.

Department of Biology, Faculty of Science, Chiang Mai University, Chiang Mai, Thailand.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzyme disorders. Prevalence and variant distribution of G6PD deficiency can vary in different regions and among differing ethnic groups. To reveal the G6PD frequency and molecular characterization among the Lue ethnic group of northern Thailand, blood samples of 296 unrelated individuals collecting from 6 Lue villages were analyzed. Read More

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February 2021

Glucose-6-phosphate dehydrogenase deficiency contributes to metabolic abnormality and pulmonary hypertension.

Am J Physiol Lung Cell Mol Physiol 2021 04 27;320(4):L508-L521. Epub 2021 Jan 27.

Division of Endocrinology, Department of Medicine, University of Arizona College of Medicine, Tucson, Arizona.

We have previously reported that several patients with idiopathic pulmonary hypertension (PH) had different types of G6PD deficiency. However, the role of G6PD in PH is multifactorial because G6PD is involved in controlling oxidative stress, metabolic switch, and red blood cell fragility. To delineate the contribution of G6PD to PH pathogenesis, we utilized a mouse line with decreased expression of G6PD (10% from wild-type level). Read More

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Vitamin C and kidney transplantation: Nutritional status, potential efficacy, safety, and interactions.

Clin Nutr ESPEN 2021 Feb 9;41:1-9. Epub 2021 Jan 9.

Nephrology Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Background And Aim: There are several observational and interventional studies regarding the advantages of sufficient serum levels of vitamin C and the evaluation of the effects of vitamin C supplementation post kidney transplantation. These studies have been put together to investigate the role of vitamin C post-kidney transplantation and make suggestions for designing future studies based on the use of vitamin C supplements or nutritional interventions among these patients.

Methods: This narrative review was done by searching in the Embase, PubMed, and SCOPUS databases. Read More

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February 2021

Long-range structural defects by pathogenic mutations in most severe glucose-6-phosphate dehydrogenase deficiency.

Proc Natl Acad Sci U S A 2021 Jan;118(4)

Biological Sciences Division, SLAC National Accelerator Laboratory, Menlo Park, CA 94025;

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common blood disorder, presenting multiple symptoms, including hemolytic anemia. It affects 400 million people worldwide, with more than 160 single mutations reported in G6PD. The most severe mutations (about 70) are classified as class I, leading to more than 90% loss of activity of the wild-type G6PD. Read More

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January 2021

Glucose-6-phosphate dehydrogenase deficiency and COVID-19 mortality.

Minerva Med 2021 Jan 19. Epub 2021 Jan 19.

Department of Neurology, University Hospital 12 de Octubre, Madrid, Spain.

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January 2021

G6PD deficiency and severity of COVID19 pneumonia and acute respiratory distress syndrome: tip of the iceberg?

Ann Hematol 2021 Mar 13;100(3):667-673. Epub 2021 Jan 13.

Collaborative Action for SARS-CoV-2 Eradication (CARE), Houston, TX, USA.

The severe pneumonia caused by the human coronavirus (hCoV)-SARS-CoV-2 has inflicted heavy casualties, especially among the elderly and those with co-morbid illnesses irrespective of their age. The high mortality in African-Americans and males, in general, raises the concern for a possible X-linked mediated process that could affect the viral pathogenesis and the immune system. We hypothesized that G6PD, the most common X-linked enzyme deficiency, associated with redox status, may have a role in severity of pneumonia. Read More

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Assessment of serum aflatoxin B levels in neonatal jaundice with glucose-6-phosphate dehydrogenase deficiency: a preliminary study.

Mycotoxin Res 2021 Feb 11;37(1):109-116. Epub 2021 Jan 11.

Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt.

Aflatoxin (AF) contamination of food products is still a major health issue globally. Prior studies suggest that exposure to AFs during pregnancy has harmful fetal outcomes. This preliminary study was designed to assess serum AFB levels in neonatal jaundice (NNJ) secondary to glucose-6-phosphate dehydrogenase (G6PD) deficiency. Read More

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February 2021