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.
| Descriptor ID |
D017118
|
| MeSH Number(s) |
C06.552.830.150 C16.320.850.742.150 C17.800.827.742.150 C18.452.811.400.150
|
| 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
- Porphyria, Swedish Type
- Porphyrias, Swedish Type
- Swedish Type Porphyria
- Swedish Type Porphyrias
- Type Porphyria, Swedish
- Type Porphyrias, Swedish
- UPS Deficiency
- Deficiencies, UPS
- Deficiency, UPS
- UPS Deficiencies
- PBGD Deficiency
- Deficiencies, PBGD
- Deficiency, PBGD
- PBGD Deficiencies
- Porphobilinogen Deaminase Deficiency
- Deaminase Deficiencies, Porphobilinogen
- Deaminase Deficiency, Porphobilinogen
- Deficiencies, Porphobilinogen Deaminase
- Deficiency, Porphobilinogen Deaminase
- Porphobilinogen Deaminase 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]
- 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]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Porphyrias [C18.452.811]
- Porphyrias, Hepatic [C18.452.811.400]
- Porphyria, Acute Intermittent [C18.452.811.400.150]
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 this website by year, and whether "Porphyria, Acute Intermittent" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 3 | 0 | 3 |
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Below are the most recent publications written about "Porphyria, Acute Intermittent" by people in Profiles.
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A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. Medicine (Baltimore). 2018 Sep; 97(37):e12295.
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Rhodococcus equi Pneumonia in Kidney Transplant Recipient Affected by Acute Intermittent Porphyria: A Case Report. Transplant Proc. 2019 Jan - Feb; 51(1):229-234.
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Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver. J Intern Med. 2018 07; 284(1):78-91.