glutathione synthetase deficiency usmle

glutathione synthetase deficiency usmle HMP Shunt - Biochemistry A very common USMLE Step

Name: glutathione synthetase deficiency usmle HMP Shunt - Biochemistry A very common USMLE Step
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A very common USMLE Step 2 CK trap macrocytic anemia in alcohol use, and many jump to the wrong deficiency. Chronic alcohol use + macrocytosis pancytopenia think folate X linked recessive NADPH RBCs can't handle oxidative stress NADPH keeps glutathione active protects RBCs Triggers ( Biochemical pathway and lab findings of 21 hydroxylase deficiency USMLE #USMLEStep1 #MedEd #Endocrinology #Pediatrics #CAH #AdrenalHyperplasia #Genetics #Step1Prep #HighYield #MedSchool #InternalMedicine #Biochemistry #Steroidogenesis #FutureDoctor Amino Acid Metabolism and Heritable Disorders of Degradation Cell Biology, Genetics, and Biochemistry for Pre Clinical Students

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There were 97 common DAPs for T3/T1and T4/T3, 54 for T2/T1 and T4/T3, and 82 for T3/T1and T4/T1 (Fig

It is specifically characterized by inflammation, demyelination, and neuronal loss and manifests with a range of neurological symptoms including numbness, tingling, vision impairment, cognitive impairment, and bladder and bowel dysfunction (Tafti et al., 2024)