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Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias. [1] [2] [3]
Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda. [5] Treatment depends on the type of porphyria and the person's symptoms. [2]
The most well-known health issue involving porphobilinogen deaminase is acute intermittent porphyria, an autosomal dominant genetic disorder where insufficient hydroxymethylbilane is produced, leading to a build-up of porphobilinogen in the cytoplasm. This is caused by a gene mutation that, in 90% of cases, causes decreased amounts of enzyme.
The disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent porphyria. [1] Patients can also have gastrointestinal symptoms during acute attacks, including abdominal cramping, vomiting, and constipation. [2]
Heme arginate (or haem arginate) is a compound of heme and arginine used in the treatment of acute porphyrias. [1] [2] This heme product is only available outside the United States and is equivalent to hematin. [3] Heme arginate is a heme compound, whereby L-arginine is added to prevent rapid degradation.
Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. [1] HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified.
Givosiran, sold under the brand name Givlaari, is a medication used for the treatment of adults with acute hepatic porphyria. [3] [6] [7] [8] Givosiran is a small interfering RNA (siRNA) directed towards delta-aminolevulinate synthase 1 (ALAS1), [9] an important enzyme in the production of heme.
acute intermittent porphyria; ... In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein ...
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