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German Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.
J Clin Med
November 2024
Porphyria Center, Chemnitz Hospital, 09116 Chemnitz, Germany.
: Acute intermittent porphyria (AIP) is a metabolic disease characterised by neurovisceral crises with episodes of acute abdominal pain alongside life-altering, and often hidden, chronic symptoms. The elimination of precipitating factors, hemin therapy, and pain relief are strategies used to treat porphyria symptoms, but are often reserved for patients suffering recurrent, acute attacks. Givosiran (siRNA) is an emerging AIP therapy capable of silencing delta-aminolevulinic acid synthase-1 (ALAS1) and, in turn, reducing the accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) that precede porphyria symptoms.
View Article and Find Full Text PDFCase-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.
Liver Int
April 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Article Synopsis
- The acute hepatic porphyrias (AHPs) are a group of four rare genetic disorders that cause serious, episodic neurological symptoms due to a buildup of specific chemical precursors in the liver.
- Diagnosis can be challenging due to non-specific symptoms, but specialized tests during attacks can confirm the condition.
- Treatment for severe episodes includes intravenous hemin, and potential long-term management with givosiran is available for patients with frequent attacks; regular health surveillance is also necessary to monitor for serious complications.
Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria.
Biomolecules
December 2023
Department of Medicine, Hematology Division, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
Acute intermittent porphyria (AIP) is characterized by acute neurovisceral attacks that are precipitated by the induction of hepatic 5-aminolevulinic acid synthase 1 (ALAS1). In erythropoietic protoporphyria (EPP), sun exposure leads to skin photosensitivity due to the overproduction of photoreactive porphyrins in bone marrow erythroid cells, where heme synthesis is primarily driven by the ALAS2 isozyme. Cimetidine has been suggested to be effective for the treatment of both AIP and EPP based on limited case reports.
View Article and Find Full Text PDF[Acute hepatic porphyrias: pathophysiology and pathogenesis of acute attacks].
Rinsho Shinkeigaku
January 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai.
Heme is an iron-containing molecule essential for virtually all living organisms. However, excessive heme is cytotoxic, necessitating tight regulation of intracellular heme concentration. The acute hepatic porphyrias (AHPs) are a group of rare inborn errors of heme biosynthesis that are characterized by episodic acute neurovisceral attacks that are precipitated by various factors.
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