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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]
Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
1 Acute intermittent porphyria: signs and symptoms. 2 Acute ischemia: signs [especially limbs] ... Precipitated by drugs (including barbiturates, oral contraceptives, ...
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.
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.
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]
acute intermittent porphyria; Disorders of purine or pyrimidine metabolism Lesch–Nyhan syndrome; AMPD1 Deficiency (MADD) Disorders of steroid metabolism lipoid congenital adrenal hyperplasia; congenital adrenal hyperplasia; Disorders of mitochondrial function Kearns–Sayre syndrome; Disorders of peroxisomal function Zellweger syndrome ...
Acute intermittent porphyria [5] [verification needed] Hereditary coproporphyria; Variegate porphyria; Side effects of stimulants such as cocaine or methylphenidate; Side effects of antipsychotics like haloperidol; SSRI or SNRI medications; As explained in a 2008 study, in people with mood disorders there is a dynamic link between their mood ...