About: Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties     Goto   Sponge   NotDistinct   Permalink

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  • 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 is crucial to prevent life-threatening acute attacks. Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive.
  • 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 is crucial to prevent life-threatening acute attacks. Detection of DNA variations by molecular techniques allows a diagnosis of acute intermittent porphyria in situations where the measurement of porphyrins and precursors in urine and faeces and erythrocyte hydroxymethylbilane synthase activity is inconclusive. (en)
Title
  • Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
  • Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties (en)
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  • Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
  • Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties (en)
skos:notation
  • RIV/00216208:11110/09:4028!RIV10-MSM-11110___
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  • P(1M0520), S, Z(MSM0021620806)
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  • 7
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  • 301880
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  • RIV/00216208:11110/09:4028
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  • acute intermittent porphyria; heme; hydroxymethylbilane synthase; porphobilinogen deaminase; porphyria; porphobilinogen deaminase gene; uroporphyrinogen-i synthase; human-erythrocytes; point mutation; identification; expression; sequence; polymorphisms; purification; pathogenesis (en)
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  • GB - Spojené království Velké Británie a Severního Irska
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  • [A6F65714D154]
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  • FEBS Journal
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  • 276
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  • Martásek, Pavel
  • Ulbrichová, Dana
  • Saudek, V.
  • Hrdinka, M.
http://linked.open...ain/vavai/riv/wos
  • 000264021900027
http://linked.open...n/vavai/riv/zamer
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  • 1742-464X
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  • 11110
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