Porphyria, Acute Intermittent
"Porphyria, Acute Intermittent" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
MeSH Number(s)
C06.552.830.150
C16.320.565.708.400.150
C16.320.850.742.150
C17.800.827.742.150
C17.800.849.617.400.150
C18.452.648.708.400.150
C18.452.811.400.150
C18.452.880.617.400.150
Concept/Terms
Porphyria, Acute Intermittent- Porphyria, Acute Intermittent
- Acute Intermittent Porphyria
- Acute Intermittent Porphyrias
- Intermittent Porphyria, Acute
- Intermittent Porphyrias, Acute
- Porphyrias, Acute Intermittent
- Acute Porphyria
- Acute Porphyrias
- Porphyria, Acute
- Porphyrias, Acute
Hydroxymethylbilane Synthase Deficiency- Hydroxymethylbilane Synthase Deficiency
- Deficiencies, Hydroxymethylbilane Synthase
- Deficiency, Hydroxymethylbilane Synthase
- Hydroxymethylbilane Synthase Deficiencies
- Synthase Deficiencies, Hydroxymethylbilane
- Synthase Deficiency, Hydroxymethylbilane
- Uroporphyrinogen Synthase Deficiency
- Deficiencies, Uroporphyrinogen Synthase
- Deficiency, Uroporphyrinogen Synthase
- Synthase Deficiencies, Uroporphyrinogen
- Synthase Deficiency, Uroporphyrinogen
- Uroporphyrinogen Synthase Deficiencies
Below are MeSH descriptors whose meaning is more general than "Porphyria, Acute Intermittent".
- Diseases [C]
- Digestive System Diseases [C06]
- Liver Diseases [C06.552]
- Porphyrias, Hepatic [C06.552.830]
- Porphyria, Acute Intermittent [C06.552.830.150]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Porphyrias [C16.320.565.708]
- Porphyrias, Hepatic [C16.320.565.708.400]
- Porphyria, Acute Intermittent [C16.320.565.708.400.150]
- Skin Diseases, Genetic [C16.320.850]
- Porphyrias, Hepatic [C16.320.850.742]
- Porphyria, Acute Intermittent [C16.320.850.742.150]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Diseases, Genetic [C17.800.827]
- Porphyrias, Hepatic [C17.800.827.742]
- Porphyria, Acute Intermittent [C17.800.827.742.150]
- Skin Diseases, Metabolic [C17.800.849]
- Porphyrias [C17.800.849.617]
- Porphyrias, Hepatic [C17.800.849.617.400]
- Porphyria, Acute Intermittent [C17.800.849.617.400.150]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Porphyrias [C18.452.648.708]
- Porphyrias, Hepatic [C18.452.648.708.400]
- Porphyria, Acute Intermittent [C18.452.648.708.400.150]
- Porphyrias [C18.452.811]
- Porphyrias, Hepatic [C18.452.811.400]
- Porphyria, Acute Intermittent [C18.452.811.400.150]
- Skin Diseases, Metabolic [C18.452.880]
- Porphyrias [C18.452.880.617]
- Porphyrias, Hepatic [C18.452.880.617.400]
- Porphyria, Acute Intermittent [C18.452.880.617.400.150]
Below are MeSH descriptors whose meaning is more specific than "Porphyria, Acute Intermittent".
This graph shows the total number of publications written about "Porphyria, Acute Intermittent" by people in Harvard Catalyst Profiles by year, and whether "Porphyria, Acute Intermittent" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2013 | 2 | 0 | 2 |
| 2015 | 1 | 0 | 1 |
| 2018 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 1 | 1 | 2 |
| 2022 | 1 | 0 | 1 |
Below are the most recent publications written about "Porphyria, Acute Intermittent" by people in Profiles.
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A Perfect Storm: Abdominal Pain and Ileus Explained by Acute Intermittent Porphyria Caused by Prehospitalization and Intrahospitalization Factors. J Investig Med High Impact Case Rep. 2022 Jan-Dec; 10:23247096221109206.
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Case 38-2021: A 76-Year-Old Woman with Abdominal Pain, Weight Loss, and Memory Impairment. N Engl J Med. 2021 Dec 16; 385(25):2378-2388.
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Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study. Liver Int. 2022 01; 42(1):161-172.
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Pearls & Oy-sters: Guillain-Barré syndrome: An unusual presentation of acute intermittent porphyria. Neurology. 2020 09 08; 95(10):e1437-e1440.
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Recurrence of Acute Intermittent Porphyria After Liver Transplantation. Ann Intern Med. 2019 06 18; 170(12):904-905.
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Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations. Am J Med Genet B Neuropsychiatr Genet. 2019 01; 180(1):46-54.
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Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. Curr Psychiatry Rep. 2018 02 02; 20(1):5.
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Challenges in the successful management of a case of acute intermittent porphyria in India. Trop Doct. 2016 Jul; 46(3):150-3.
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Safety and liver transduction efficacy of rAAV5-cohPBGD in nonhuman primates: a potential therapy for acute intermittent porphyria. Hum Gene Ther. 2013 Dec; 24(12):1007-17.
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Authors' reply. J Postgrad Med. 2013 Oct-Dec; 59(4):339.