Tagged: Erythropoietic porphyria

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Porphyria – A case discussion

QUESTION OF THE DAY A 21-year-old young woman, who recently began taking birth control pills, presents to the emergency room with cramping abdominal pain, anxiety, paranoia, and hallucinations. A surgical evaluation, including ultrasound and computed tomography (CT) scan, fails to demonstrate an acute abdominal process. A urinalysis reveals an increase in urine porphyrins. Which of the following is the most likely defect? A. Congenital erythropoietic porphyria B. Variegate porphyria C. Porphyria cutanea tarda D. Acute intermittent porphyria E. Erythropoietic porphyria Answer- D- Acute intermittent porphyria; the patient is suffering from acute intermittent porphyria as  is evident from the clinical manifestations-...

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Case study- Porphyria

19/01/2014 Heme metabolism  Heme synthesis Heme biosynthesis involves eight enzymatic steps in the conversion of glycine and succinyl-CoA to heme (figure). The first and last three enzymes in the pathway are located in the mitochondrion, whereas the other four are in the cytosol. Heme is required for a variety of hemoproteins such as hemoglobin, myoglobin, respiratory cytochromes, and the cytochrome P450 enzymes (CYPs). Hemoglobin synthesis in erythroid precursor cells accounts for approximately 85% of daily heme synthesis in humans. Hepatocytes account for most of the rest, primarily for synthesis of CYPs, which are especially abundant in the liver endoplasmic reticulum,...

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