ReviewIntractable & rare diseases research2020
Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations.
Review in Intractable & rare diseases research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- A Case Report of Acute Intermittent Porphyria Accompanied by Severe Peripheral Neuropathy.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- An easily overlooked disease in the early stages: acute intermittent porphyria.BMC neurology · 2025Article
- Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.Orphanet journal of rare diseases · 2024Article
- Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman.Cureus · 2024Article
- Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Reversible Cerebral Vasoconstriction Syndrome and Myocardial Ischemia: A Case Report and Review.Psychology research and behavior management · 2024Article
- Article
- Clinical-Pathological Conference Series from the Medical University of Graz : Case No 175: A 54-year-old man with hyponatremia and delirium after surgery for a prolapsed disc.Wiener klinische Wochenschrift · 2023Article
- Review
- A case report of acute intermittent porphyria leading to severe disability.Frontiers in neurology · 2023Article
- NovelWorld journal of clinical cases · 2022Article
- Inferior Vena Cava Thrombosis in a Porphyria Patient.Acta Cardiologica Sinica · 2022Article
- Acute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report.Archives of academic emergency medicine · 2022Article
- A Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors.Journal of investigative medicine high impact case reportsArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Porphyrias are a group of inherited metabolic diseases that include eight types, each of which is caused by a mutation that affects an enzyme of the heme biosynthetic pathway. When an enzyme defect has physiological significance, it leads to overproduction of pathway precursors prior to the defective step. The partial absence of the third enzyme in the heme biosynthetic pathway, porphobilinogen deaminase (PBGD) also known as hydroxymethylbilane synthase (HMBS), results in acute intermittent porphyria (AIP), which affects mainly women. Subjects who had AIP symptoms were deemed to have manifest AIP (MAIP). Clinical manifestations are usually diverse and non-specific. Acute AIP episodes may present with abdominal pain, nausea, and vomiting, and repeated episodes may result in a series of chronic injuries. Therefore, studying the mechanisms of acute and chronic manifestations of AIP is of great significance. This review aims to summarize the possible mechanisms of acute and chronic manifestations in patients with AIP.
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