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• W3193192571 endingPage "117605" @default.
• W3193192571 startingPage "117605" @default.
• W3193192571 abstract "Porphyrias are a set of rare inherited metabolic disorders, each of them representing a defect in one of the eight enzymes in the haem biosynthetic pathway resulting in the accumulation of organic compounds called porphyrins. Acute hepatic porphyrias (AHP) are those in which the enzyme deficiency occurs in the liver, of which acute intermittent porphyria is by far the most common subtype. Neurology of the AHP is still challenging in practice, and patients rarely receive the correct diagnosis early in the disease course. For AHP, which primarily affects the central and peripheral nervous system, the cause of symptoms seems to be the increased production of neurotoxic precursors, in particular delta-aminolaevulinic acid and porphobilinogen. Neurological complications usually result from severe episodes of acute attacks. The neurologic hallmark of porphyrias is an acute predominantly motor axonal neuropathy resembling a Guillain-Barré syndrome that generally occurs after the onset of other clinical features such as abdominal pain and central nervous system manifestations. Neuropsychiatric syndromes, seizures, encephalopathy, and cerebrovascular disorders are among the possible central nervous system presentations. Therapeutic approach to AHP is divided into management and prophylaxis of an acute attack, including long standing options such as intravenous hematin and new therapeutic agents such as givosiran." @default.
• W3193192571 created "2021-08-16" @default.
• W3193192571 creator A5032320220 @default.
• W3193192571 creator A5058050684 @default.
• W3193192571 date "2021-09-01" @default.
• W3193192571 modified "2023-09-26" @default.
• W3193192571 title "Neurology of the acute hepatic porphyrias" @default.
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• W3193192571 doi "https://doi.org/10.1016/j.jns.2021.117605" @default.
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