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By preserving energy stores, this decrease contributes to the inability of most people to maintain their weight loss 6,7,8
Introduction Clinical definition glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder that causes an intrinsic hemolytic anemia Epidemiology Prevalence 7.1% worldwide most common enzyme disorder of erythrocytes Demographics more severe in males than females common in areas where malaria is endemic sub-Saharan Africa Middle East Southeast Asia Mediterranean regions Pacific islands Genetics inheritance pattern X-linked mutations G6PD gene encoding the G6PD enzyme ETIOLOGY Pathophysiology G6PD affects the pentose phosphate (hexose monophosphate) pathway generates nicotinamide dinucleotide phosphate (NADPH), which protects red blood cells against oxidative stress in red blood cells (without mitochondria), this pathway is the only source of NADPH acute hemolytic anemia following exposure to oxidative stressors oxidative stressors cause G6PD deficiency thought to decrease risk of severe malaria Presentation Symptoms primary symptoms neonatal hyperbilirubinemia on day 2-4 acute hemolytic anemia following exposure to precipitants, typically within 24-72 hours after ingestion Physical exam inspection jaundice Studies Labs complete blood count and reticulocyte count Heinz bodies hemolysis labs indirect bilirubin haptoglobin lactate dehydrogenase urine hemoglobinuria G6PD activity assays indications screening fluorescent spot test most sensitive methemoglobin reduction test Quantitative assays indications confirmation of diagnosis spectrophotometry analysis molecular diagnosis (DNA analysis) Differential Gilbert syndrome jaundice at birth (rather than delayed onset of jaundice) normal G6PD enzyme activity spherocytosis seen on peripheral blood smear Treatment Conservative avoid oxidative stressors Medical blood transfusion indications phototherapy indication Complications Recurrence of acute hemolysis Prognosis Natural history of disease typically asymptomatic until exposed to oxidative stressors Create a free account or log in to see the cards.
However, it is more easily detectable in people with fair skin as they tend to have more striking symptoms
The remaining steps were performed as described for the migration assay
Presented for research literature review only Svori JL et al
