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Variegate porphyria, also known by , is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.

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  • Variegate porphyria
  • Porfiria variegata
  • Porfiria variegata
  • Porphyria variegata
  • بورفيريا المبرقشة
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  • La porfiria variegata è un disordine della biosintesi dell'eme, classificato tra le porfirie e trasmesso come tratto autosomico dominante. È nota anche come porfiria epatica mista, porfiria mista, porfiria genetica sudafricana e porfiria sudafricana. La malattia, causata dalla presenza di bassi livelli dell'enzima protoporfirinogeno ossidasi coinvolto nella sintesi dell'eme, si può manifestare con una clinica acuta, grave ma non duratura, che coinvolge soprattutto la cute.
  • Porfiria variegata é um tipo de porfiria que pode ter sintomas agudos (severos porém não muito prolongados) que afetam a pele. Este distúrbio resulta dos baixos níveis da enzima responsável pelo sétimo passo na produção do heme, que é uma molécula vital para todos os órgãos do corpo, já que é um componente da hemoglobina, a molécula que carrega oxigênio no sangue.
  • Die Porphyria variegata (PV) ist eine akute Porphyrieform mit hauptsächlich neuroviszeralen Symptomen und gelegentlichen Unverträglichkeitsreaktionen gegenüber Sonnenlicht. Besonders viele Fälle treten in Südafrika (Gründermutation) auf. Die Behandlung ist vergleichbar mit der akuten intermittierenden Porphyrie. Auf Phlebotomie und Chloroquin-Gabe sprechen Patienten mit Porphyria variegata allerdings nicht an.
  • Variegate porphyria, also known by , is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.
  • البورفيريا المبرقشة ، والمعروفة أيضًا بالعديد من الأسماء الأخرى ، مثل بورفيريا الجسمية السائدة التي يمكن أن يكون لها أعراض حادة (شديدة ولكنها ليست طويلة الأمد) بالإضافة إلى الأعراض التي تؤثر على الجلد . ينتج الاضطراب عن انخفاض مستويات الإنزيم المسؤول عن الخطوة السابعة في إنتاج الهيم . الهيم هو جزيء حيوي لجميع أجهزة الجسم. وهو أحد مكونات الهيموغلوبين ، وهو الجزيء الذي يحمل الأكسجين في الدم .
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  • Variegate porphyria
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  • Variegate porphyria
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  • genetic mutations.
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