PMC:101407 / 1428-2328 JSONTXT

{"project":"2_test","denotations":[{"id":"11914144-4907358-8811528","span":{"begin":839,"end":840},"obj":"4907358"}],"text":"Acute Intermittent Porphyria (AIP) is an autosomal dominant inherited disorder because of a partial defect in Porphobilinogen Deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. As a result, the porphyrins precursors, δ-aminolevulinic acid (ALA) and Porphobilinogen (PBG) can accumulate [1]. Furthermore, the free heme pool would decrease and adversely affect P-450 and several important antioxidant enzymes, leading to impaired hepatic detoxification reactions [2]. Clinically, the disease is characterized by occasional acute attacks of abdominal pain and various neuropsychiatric symptoms. Several therapeutic drugs, anaesthetics and infections are considered the most frequent precipitating factors of acute attacks in the Argentinean population [3]. Specific treatments for acute attacks include high glucose intake [4], hemin [5] and folic acid in combination with glucose [6]."}