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".
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