ReviewMolecular genetics and metabolism2019
Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
Review in Molecular genetics and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
48 citing papers in PubMed, 96 citations in OpenAlex.
- Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.Orphanet journal of rare diseases · 2024Trial
- Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study.Liver international : official journal of the International Association for the Study of the Liver · 2022Trial
- Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.Orphanet journal of rare diseases · 2026Article
- The bidirectional relationship between diabetes mellitus and liver disease: Mechanisms, clinical implications, and management strategies.Endocrine · 2026Review
- Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to BiallelicJIMD reports · 2026Article
- New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.Journal of internal medicine · 2026Article
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.Hepatology communications · 2025Review
- Claw hands in acute intermittent porphyria.Oxford medical case reports · 2025Article
- Screening for acute hepatic porphyria in postural tachycardia syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2025Article
- Pharmaceutical perspectives on oligonucleotide therapeutics and delivery systems.Pharmacological reviews · 2025Review
- Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.Metabolites · 2025Review
- Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patients.JIMD reports · 2024Article
- Preventing hyperhomocysteinemia using vitamin BMolecular genetics and metabolism reports · 2024Article
- Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.Frontiers in genetics · 2024Review
- Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.Pharmacological reviews · 2023Review
- Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.Orphanet journal of rare diseases · 2023Article
- Article
- The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report.Cureus · 2023Article
- Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrum.JIMD reports · 2023Article
- A case report of acute intermittent porphyria leading to severe disability.Frontiers in neurology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The acute hepatic porphyrias include four disorders: acute intermittent porphyria [AIP], hereditary coproporphyria [HCP], variegate porphyria [VP], and the rare porphyria due to severe deficiency of ALA dehydratase [ADP]. In the USA, AIP is the most severe and most often symptomatic. AIP, HCP, and VP are due to autosomal dominant genetic abnormalities, in which missense, nonsense, or other mutations of genes of normal hepatic heme biosynthesis, in concert with other environmental, nutritional, hormonal and genetic factors, may lead to a critical deficiency of heme, the end-product of the pathway, in a small but critical 'regulatory pool' within hepatocytes. This deficiency leads to de-repression of the first and normally rate-controlling enzyme of the heme synthetic pathway, delta- or 5-aminolevulinic acid [ALA] synthase-1, and thus to marked up-regulation of this key enzyme and to marked hepatic overproduction of ALA. In addition, except for ADP, there is marked overproduction as well of porphobilinogen [PBG], the intermediate immediately downstream of ALA in the synthetic chain, and, especially in HCP and VP, also porphyrinogens and porphyrins farther down the pathway. The major clinical features of the acute porphyrias are attacks of severe neuropathic-type pain. Pain is felt first and foremost in the abdomen but may also occur in the back, chest, and extremities. Attacks are more common in women than in men [ratio of about 4:1], often accompanied by nausea, vomiting, constipation, tachycardia, and arterial hypertension. Hyponatremia may also occur. Some patients also describe chronic symptoms of pain, anxiety, insomnia, and others.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.