| Descriptor English: | Porphyria, Acute Intermittent | ||||||
| Descriptor Spanish: |
Porfiria Intermitente Aguda
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| Descriptor Portuguese: | Porfiria Aguda Intermitente | ||||||
| Descriptor French: | Porphyrie aigüe intermittente | ||||||
| Entry term(s): |
Acute Intermittent Porphyria Acute Intermittent Porphyrias Acute Porphyria Acute Porphyrias Deaminase Deficiencies, Porphobilinogen Deaminase Deficiency, Porphobilinogen Deficiencies, Hydroxymethylbilane Synthase Deficiencies, PBGD Deficiencies, Porphobilinogen Deaminase Deficiencies, UPS Deficiencies, Uroporphyrinogen Synthase Deficiency, Hydroxymethylbilane Synthase Deficiency, PBGD Deficiency, Porphobilinogen Deaminase Deficiency, UPS Deficiency, Uroporphyrinogen Synthase Hydroxymethylbilane Synthase Deficiencies Hydroxymethylbilane Synthase Deficiency Intermittent Porphyria, Acute Intermittent Porphyrias, Acute PBGD Deficiencies PBGD Deficiency Porphobilinogen Deaminase Deficiencies Porphobilinogen Deaminase Deficiency Porphyria, Acute Porphyria, Swedish Type Porphyrias, Acute Porphyrias, Acute Intermittent Porphyrias, Swedish Type Swedish Type Porphyria Swedish Type Porphyrias Synthase Deficiencies, Hydroxymethylbilane Synthase Deficiencies, Uroporphyrinogen Synthase Deficiency, Hydroxymethylbilane Synthase Deficiency, Uroporphyrinogen Type Porphyria, Swedish Type Porphyrias, Swedish UPS Deficiencies UPS Deficiency Uroporphyrinogen Synthase Deficiencies Uroporphyrinogen Synthase Deficiency |
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| Tree number(s): |
C06.552.830.150 C16.320.850.742.150 C17.800.827.742.150 C18.452.811.400.150 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D017118 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Porphyria (1966-1992) |
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| Public MeSH Note: | 1993 |
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| History Note: | 1993 |
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| Related: |
Hydroxymethylbilane Synthase
MeSH | ||||||
| DeCS ID: | 30609 | ||||||
| Unique ID: | D017118 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1993/01/01 | ||||||
| Date of Entry: | 1992/05/22 | ||||||
| Revision Date: | 2015/06/05 |
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Porphyria, Acute Intermittent
- Preferred
Hydroxymethylbilane Synthase Deficiency
- Related but not broader or narrower
| Concept UI |
M0026010 |
| Scope note | 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. |
| Preferred term | Porphyria, Acute Intermittent |
| Entry term(s) |
Acute Intermittent Porphyria Acute Intermittent Porphyrias Acute Porphyria Acute Porphyrias Intermittent Porphyria, Acute Intermittent Porphyrias, Acute Porphyria, Acute Porphyrias, Acute Porphyrias, Acute Intermittent |
| Concept UI |
M0536366 |
| Preferred term | Hydroxymethylbilane Synthase Deficiency |
| Entry term(s) |
Deaminase Deficiencies, Porphobilinogen Deaminase Deficiency, Porphobilinogen Deficiencies, Hydroxymethylbilane Synthase Deficiencies, PBGD Deficiencies, Porphobilinogen Deaminase Deficiencies, UPS Deficiencies, Uroporphyrinogen Synthase Deficiency, Hydroxymethylbilane Synthase Deficiency, PBGD Deficiency, Porphobilinogen Deaminase Deficiency, UPS Deficiency, Uroporphyrinogen Synthase Hydroxymethylbilane Synthase Deficiencies PBGD Deficiencies PBGD Deficiency Porphobilinogen Deaminase Deficiencies Porphobilinogen Deaminase Deficiency Porphyria, Swedish Type Porphyrias, Swedish Type Swedish Type Porphyria Swedish Type Porphyrias Synthase Deficiencies, Hydroxymethylbilane Synthase Deficiencies, Uroporphyrinogen Synthase Deficiency, Hydroxymethylbilane Synthase Deficiency, Uroporphyrinogen Type Porphyria, Swedish Type Porphyrias, Swedish UPS Deficiencies UPS Deficiency Uroporphyrinogen Synthase Deficiencies Uroporphyrinogen Synthase Deficiency |
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