2009
DOI: 10.1111/j.1742-4658.2009.06946.x
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Acute intermittent porphyria – impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties

Abstract: Acute intermittent porphyria is an autosomal dominantly inherited disorder, classified as acute hepatic porphyria, caused by a deficiency of hydroxymethylbilane synthase (EC 2.5.1.61, EC 4.3.1.8, also known as porphobilinogen deaminase, uroporphyrinogen I synthase), the third enzyme in heme biosynthesis. Clinical features include autonomous, central, motor or sensory symptoms, but the most common clinical presentation is abdominal pain caused by neurovisceral crises. A diagnosis of acute intermittent porphyria… Show more

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Cited by 12 publications
(7 citation statements)
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“…Cirrhosis is not frequent in patients with AIP, but morphologic abnormalities of hepatocytes at liver biopsy and altered liver biochemical function have been reported [26]. The disease is inherited as an autosomal dominant trait and is related to a deficiency in enzymatic activity of hydroxymethylbilane synthase (HMBS) (also known as porphobilinogen deaminase) resulting from several coding or non-coding mutations in the HMBS gene, which maps on chromosome 11q23.3 [26,27]. Compared with the total population, the risk of HCC is increased >30-fold in AIP patients [28,29] (Table 1).…”
Section: Porphyriasmentioning
confidence: 98%
“…Cirrhosis is not frequent in patients with AIP, but morphologic abnormalities of hepatocytes at liver biopsy and altered liver biochemical function have been reported [26]. The disease is inherited as an autosomal dominant trait and is related to a deficiency in enzymatic activity of hydroxymethylbilane synthase (HMBS) (also known as porphobilinogen deaminase) resulting from several coding or non-coding mutations in the HMBS gene, which maps on chromosome 11q23.3 [26,27]. Compared with the total population, the risk of HCC is increased >30-fold in AIP patients [28,29] (Table 1).…”
Section: Porphyriasmentioning
confidence: 98%
“…Acute intermittent hepatic porphyria (AIP) is the most common form of porphyria. Cirrhosis is not frequent in patients with AIP, but morphologic abnormalities of hepatocytes on liver biopsy and altered liver biochemical function have been reported [ 92 ]. Compared with the total population, the risk of HCC is increased > 30-fold in AIP patients [ 93 ].…”
Section: Risk Factorsmentioning
confidence: 99%
“…1B) results in a diseaseassociated variant (c.77G>A; p.R26H), which has been described in several different AIP families [36,37]. Two other missense substitutions at the same location, p.R26C and p.R26L, have also been reported [38][39][40][41][42][43][44][45]. In this work, we have sought to characterise the p.R26H variant to shed light on Arg26 and its role in the elongation mechanism of HMBS.…”
mentioning
confidence: 99%