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Dionne JA, Zhu C, Mejia-Galvis J, Workowski K, Batteiger TA, Dombrowski JC, et al
Facts : X linked recessive disorder, MC in AA men G6PD enzyme involved in creating NADPH (cofactor required to create glutathione and prevent oxidation of hemoglobin) Without G6PD, hemoglobin becomes oxidized and denatures into Heinz bodies Variants are G6PD A- (moderate enzyme deficiency) and G6PD Mediterranean (severe enzyme deficiency History / PE : Fever Jaundice Abdominal pain Hematuria Diagnosis : Heinz bodies (denatured hemoglobin) and bite cells Positive Prussian blue staining (detects hemosiderin) G6PD levels are usually paradoxically normal during hemolytic episode Notes : Patients are less susceptible to malaria Associated With : Episodic hemolysis from fava beans , oxidant drugs (esp
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Int J Mol Sci 20
Parkin regulates amino acid homeostasis at mitochondria-lysosome (M/L) contact sites in Parkinsons disease
Soref 2012)
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