ReviewCurrent neurology and neuroscience reports2022
Neurological Manifestations of Acute Porphyrias.
Review in Current neurology and neuroscience reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- A Case Report of Acute Intermittent Porphyria Accompanied by Severe Peripheral Neuropathy.Diagnostics (Basel, Switzerland) · 2026Article
- Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.Journal of medical case reports · 2026Article
- Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation.Molecular genetics and metabolism reports · 2024Article
- Article
- Neurofilament light chain as a biomarker for acute hepatic porphyrias.Frontiers in neurology · 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
- Review
- Intrahepatic Cholangiocarcinoma and Acute Intermittent Porphyria: A Case Report.Journal of clinical medicine · 2023Article
- Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway.Biomedicines · 2022Article
- NovelWorld journal of clinical cases · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewPorphyrias constitute a group of rare metabolic disorders that result in a deficiency of the heme biosynthetic pathway and lead to the accumulation of metabolic intermediaries. Patients with porphyria can experience recurrent neurovisceral attacks which are characterized by neuropathic abdominal pain and acute gastrointestinal symptoms, including nausea, vomiting, and constipation. Depending on the type of porphyria, patients can present with cutaneous manifestations, such as severe skin photosensitivity, chronic hemolysis, or evidence of neurologic dysfunction, including alterations in consciousness, neurovascular involvement, seizures, transient sensor-motor symptoms, polyneuropathy, and behavioral abnormalities. RECENT
findingsMore recently, cases of posterior reversible encephalopathy syndrome, cerebral vasoconstriction, and acute flaccid paralysis have also been described. While the exact pathogenic mechanisms linking the accumulation of abnormal heme biosynthetic intermediaries to neurologic manifestations have not been completely elucidated, it has been proposed that these manifestations are more common than previously thought and can result in permanent neurologic injury. This article reviews the basic principles of heme synthesis as well as the pathogenic mechanism of disease, presentation, and treatment of acute hepatic porphyrias with emphasis on those with neurologic manifestations.
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