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Acute intermittent porphyria: Disease, Mnemonic, Treatment

Acute intermittent porphyria - Mnemonic - Medical Institution

Acute intermittent porphyria:

Acute intermittent porphyria (AIP), an autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding group of hemoglobin. Acute intermittent porphyria is due to deficiency of the enzyme porphobilinogen deaminase. It is the second most common form of porphyria (porphyria cutanea tarda being the most common).

 

 

 

Acute intermittent porphyria Mnemonic – Medical Institution

Mechanism of Acute intermittent porphyria:

Approximately 90% of cases of acute intermittent porphyria are due to a mutation that causes decreased amounts of the enzyme, and to a lesser degree by a mutation that causes decreased activity of each enzyme molecule. Under normal circumstances, heme synthesis begins in the mitochondrion, proceeds into the cytoplasm, and finishes back in the mitochondrion. However, without porphobilinogen deaminase, a necessary cytoplasmic enzyme, heme synthesis cannot finish, and the metabolite porphobilinogen accumulates in the cytoplasm.

 

Symptoms of Acute intermittent porphyria:

Most patients with acute intermittent porphyria are completely free of symptoms between attacks. How the porphyrin precursors lead to these symptoms is unknown.

Treatment for Acute intermittent porphyria:

The treatment goal for acute attacks of acute intermittent porphyria is to decrease heme synthesis and reduce the production of porphyrin precursors.

 

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