Glucose 6 phosphate dehydrogenase (G6PD) is called the house keeping enzyme essential for all cells survival. G6PD deficiency is best studied for its role in hemolysis as this enzyme is the only source of nicotinamide adenine dinucleotide phosphate (NADPH) in red blood cells (RBCs) and is the cells defense against reactive oxygen species. We present one of the rare complications of G6PD deficiency in this case where all other causes of priapism were ruled out.
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http://dx.doi.org/10.14740/jmc3355 | DOI Listing |
J Pediatr Hematol Oncol
March 2025
Mutations that alter the structure of red blood cells, including the mutations that cause sickle cell disease (SCD), are common globally because they protect against malaria. Patients with SCD rarely develop severe anemia that requires blood transfusions before 6 months of age. We present the case of a patient with SCD who developed severe anemia requiring a blood transfusion at 6 weeks old and subsequent transfusions throughout her first two and a half years of life.
View Article and Find Full Text PDFSemin Fetal Neonatal Med
February 2025
Stanford Children's Health, Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University School of Medicine, Stanford, CA, USA.
The WHO recently revised their classification schema for G6PD gene variants. Notably, the previously separate Class II (severe enzyme deficiency; <10 % normal) and Class III (moderate enzyme deficiency; 10-60 % normal) variant groups are now combined into a single new category designated as Class B. Class B variants exhibit G6PD enzymatic activity in the <45 % of normal range.
View Article and Find Full Text PDFBMJ Public Health
December 2024
Department of Medical Genetics, JSS Medical College, Mysore, Karnataka, India.
Introduction: Newborn screening (NBS) is an essential public health initiative for early diagnosis of inborn errors of metabolism (IEM), where timely intervention can reduce morbidity and mortality. While routine in developed countries, NBS is not widely practised in India. This study aimed to implement NBS programme in a tertiary care hospital in South India and validate predetermined cut-off values tailored to the regional population.
View Article and Find Full Text PDFAutoimmun Rev
February 2025
Departments of Medicine, Microbiology and Immunology, Biochemistry and Molecular Biology, and Pathology, State University of New York Upstate Medical University, Norton College of Medicine, 750 East Adams Street, Syracuse, NY 13210, USA. Electronic address:
The pathogenesis of autoimmunity is incompletely understood which limits the development of effective therapies. New compelling evidence indicates that the pentose phosphate pathway (PPP) profoundly regulate lineage development in the immune system that are influenced by genetic and environmental factors during metabolic stress underlying the development of autoimmunity. The PPP provides two unique metabolites, ribose 5-phosphate for nucleotide biosynthesis in support of cell proliferation and NADPH for protection against oxidative stress.
View Article and Find Full Text PDFAntimicrob Agents Chemother
February 2025
Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.
Primaquine is the only widely available drug to prevent relapses of malaria. Primaquine is underused because of concerns over oxidant hemolysis in glucose-6-phosphate dehydrogenase (G6PD) deficiency. A pharmacometric trial showed that ascending-dose radical cure primaquine regimens causing 'slow burn' hemolysis were safe in G6PD-deficient Thai and Burmese male volunteers.
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