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C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe eight families with ALAS2 deletions, eitherExpand
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An Analysis of 112 Acute Porphyric Attacks in Cape Town, South Africa: Evidence That Acute Intermittent Porphyria and Variegate Porphyria Differ in Susceptibility and Severity
Abstract: Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by abdominal and neurologic symptoms.Expand
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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a propensity to develop acute neuropsychiatricExpand
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Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria.
Variegate porphyria (VP) is characterized by photocutaneous lesions and acute neuropsychiatric attacks. Decreased protoporphyrinogen oxidase activity results in accumulation of protoporphyrin (ogen)Expand
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A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family
Background  Variegate porphyria (VP) is an autosomal dominant disorder associated with deficient haem synthesis. Recent reports indicate that the clinical penetrance of VP may have been overestimatedExpand
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The acute porphyrias
Public attention has been drawn to the acute porphyrias in the past few years by speculation that they affected the character of George III and the creative genius of Vincent van Gogh. During theExpand
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Crystal Structure of Protoporphyrinogen Oxidase from Myxococcus xanthus and Its Complex with the Inhibitor Acifluorfen*
Protoporphyrinogen IX oxidase, a monotopic membrane protein, which catalyzes the oxidation of protoporphyrinogen IX to protoporphyrin IX in the heme/chlorophyll biosynthetic pathway, is distributedExpand
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Anaesthesia for the porphyric patient
The porphyrias feature prominently among the pharmacogenetic conditions of concern to the anaesthetist, in particular the three so-called ‘acute’ prophyrias: acute intermittent porphyria, variegateExpand
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Homozygous variegate porphyria: an evolving clinical syndrome.
Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have beenExpand
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Erythroid heme biosynthesis and its disorders.
Heme, which is composed of iron and the small organic molecule protoporphyrin, is an essential component of hemoglobin as well as a variety of physiologically important hemoproteins. DuringExpand
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