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What is heme biosynthesis?
Much of the heme biosynthesis pathway is dedicated to constructing the porphyrin molecule.
What is significant about heme biosynthesis?
It is complex, various chemical signals can trigger increased or decreased production. These signals can affect the enzymes themselves or the production of these enzymes, at the genetic level.
Where is heme found?
Primary biosynthesis sites are the liver and the bone marrow.
What were porphyrias affecting heme biosynthesis in the liver called?
Hepatic porphyrias.
What is a description of porphyrias?
Owing to a defect in one of the enzymes of the heme biosynthesis pathway, protoporphyrins or porphyrins (heme precursors) are prevented from proceeding further along the pathway.
What is porphobilinogen?
Porphobilinogen is an intermediate molecule in the biosynthesis of heme, a component of hemoglobin and other proteins. It is produced in the body through a series of enzymatic reactions in the heme biosynthesis pathway. Elevated levels of porphobilinogen can be found in certain conditions like acute intermittent porphyria.
What is the underlying cause of all porphyrias?
The underlying cause of all porphyrias is a defective enzyme important to the heme biosynthesis pathway. Porphyrias are inheritable conditions.
What were porphyrias affecting heme biosynthesis in immature red blood cells called?
Erythropoietic porphyrias (erythropoiesis is the process through which red blood cells are produced).
How do you describe non-acute hepatoerythopoietic porphyria?
Hepatoerythopoietic porphyria (HEP) affects heme biosynthesis in both the liver and the bone marrow and appears due to inheriting an autosomal recessive gene.
What is prophyria?
Porphyria refers to a group of rare, inherited disorders that affect the heme biosynthesis pathway, leading to the accumulation of porphyrins or heme precursors in the body. Symptoms can range from mild to severe and may include abdominal pain, skin sensitivity to light, and neurological issues. Treatment often involves managing symptoms and avoiding triggers.
What are the 4 different steps at which heme biosynthesis defects occur with acute porphyrias?
ALA dehydratase deficiency porphyria (step 2); acute intermittent porphyria (step 3); hereditary coproporphyria (step 6); variegate porphyria (step 7).
What are the 4 different steps at which heme biosynthesis defects occur with non-acute porphyrias?
Congenital erythropoietic porphyria (step 4); porphyria cutanea tarda (step 5); hepatoerythopoietic porphyria (step 5); erythropoietic protoporphyria (step 8).
