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Acute Intermittent Porphyria (Porphyria, Acute)

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.
Also Known As:
Porphyria, Acute; Intermittent Porphyria, Acute; Acute Porphyria; Porphyria, Acute Intermittent; PBGD Deficiency; Porphobilinogen Deaminase Deficiency; Porphyria, Swedish Type; UPS Deficiency; Acute Intermittent Porphyrias; 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; Intermittent Porphyrias, Acute; PBGD Deficiencies; Porphobilinogen Deaminase Deficiencies; 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; Uroporphyrinogen Synthase Deficiencies; Hydroxymethylbilane Synthase Deficiency; Uroporphyrinogen Synthase Deficiency
Networked: 1215 relevant articles (44 outcomes, 71 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
2. Porphyria Cutanea Tarda
3. Erythropoietic Protoporphyria
4. Hypertension (High Blood Pressure)
5. Seizures (Absence Seizure)

Experts

1. Fontanellas, Antonio: 23 articles (12/2022 - 02/2004)
2. Desnick, Robert J: 20 articles (01/2020 - 11/2004)
3. Harper, Pauline: 19 articles (01/2022 - 08/2003)
4. Bonkovsky, Herbert L: 17 articles (12/2020 - 01/2005)
5. Yasuda, Makiko: 16 articles (01/2020 - 09/2007)
6. Gouya, Laurent: 15 articles (01/2022 - 02/2004)
7. Sampedro, Ana: 14 articles (12/2022 - 03/2010)
8. Puy, Hervé: 14 articles (01/2022 - 01/2002)
9. Anderson, Karl E: 13 articles (01/2022 - 09/2004)
10. Sardh, Eliane: 13 articles (01/2022 - 04/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acute Intermittent Porphyria:
1. Hemin (Panhematin)FDA Link
2. Heme (Haem)IBA
3. givosiranIBA
4. PorphobilinogenIBA
5. Glucose (Dextrose)FDA LinkGeneric
6. Cimetidine (Biomet)FDA LinkGeneric
7. Acute Hepatic PorphyriaIBA
8. Gonadotropin-Releasing Hormone (GnRH)FDA Link
9. Aminolevulinic Acid (Levulan)FDA Link
10. heme arginateIBA

Therapies and Procedures

1. Therapeutics
2. Liver Transplantation
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Critical Care (Surgical Intensive Care)
5. Intravenous Infusions