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; Acute Intermittent Porphyrias; Acute Porphyrias; Deficiencies, Hydroxymethylbilane Synthase; Deficiencies, Uroporphyrinogen Synthase; Deficiency, Hydroxymethylbilane Synthase; Deficiency, Uroporphyrinogen Synthase; Hydroxymethylbilane Synthase Deficiencies; Intermittent Porphyrias, Acute; Porphyrias, Acute; Porphyrias, Acute Intermittent; Synthase Deficiencies, Hydroxymethylbilane; Synthase Deficiencies, Uroporphyrinogen; Synthase Deficiency, Hydroxymethylbilane; Synthase Deficiency, Uroporphyrinogen; Uroporphyrinogen Synthase Deficiencies; Hydroxymethylbilane Synthase Deficiency; Uroporphyrinogen Synthase Deficiency
Networked: 840 relevant articles (30 outcomes, 56 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
2. Erythropoietic Protoporphyria
3. Hypertension (High Blood Pressure)
4. Hepatic Porphyrias (Hepatic Porphyria)
5. Renal Insufficiency (Renal Failure)


1. Harper, Pauline: 11 articles (09/2015 - 08/2003)
2. Fontanellas, Antonio: 9 articles (09/2015 - 02/2004)
3. Desnick, Robert J: 8 articles (01/2015 - 11/2004)
4. Sampedro, Ana: 7 articles (09/2015 - 03/2010)
5. Minder, Elisabeth I: 7 articles (03/2015 - 01/2002)
6. Mauleón, Itsaso: 6 articles (09/2015 - 03/2010)
7. Sardh, Eliane: 6 articles (09/2015 - 04/2006)
8. Bonkovsky, Herbert L: 6 articles (09/2015 - 01/2005)
9. Puy, Hervé: 6 articles (09/2015 - 01/2002)
10. Schneider-Yin, Xiaoye: 6 articles (03/2015 - 01/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acute Intermittent Porphyria:
1. Hemin (Panhematin)FDA Link
2. Heme (Haem)IBA
3. PorphobilinogenIBA
4. Glucose (Dextrose)FDA LinkGeneric
5. heme arginateIBA
6. Cimetidine (Biomet)FDA LinkGeneric
7. Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
8. ErythropoietinFDA Link
03/01/2002 - "In this study, we have investigated serum erythropoietin levels and autonomic function in patients with acute porphyria in clinical remission. "
01/01/2006 - "This article describes six diabetic, azotemic patients with no prior history of porphyria, who developed a syndrome similar to acute intermittent porphyria after initiation of treatment with erythropoietin. "
03/01/2002 - "Serum erythropoietin levels and the corresponding haemoglobin (Hb) were assayed in 31 patients with acute porphyria and were compared to 15 type 1 diabetic patients with autonomic neuropathy, 23 patients with iron-deficiency anaemia and 18 healthy individuals. "
01/01/2006 - "The development of the acute porphyria syndrome while the patients were receiving pharmacological doses of erythropoietin, which resolved when the drug was stopped, suggests that by stimulating heme synthesis, erythropoietin may unmask an enzyme deficiency resulting in the clinical expression of ADP. "
09/01/2010 - "The objectives of this study were as follows: (1) to evaluate the plasma and erythrocyte VB(6) (effect of PLP; effect of PLP was in indirect relationship with the concentration of erythrocyte VB(6)), and plasma and urinary OA in marathon runners, in patients with acute intermittent porphyria (AIP) and variegate porphyria, and in patients with stage 1 chronic kidney disease (CKD), chronic glomerulonephritis and nephrotic syndrome (CGNS); (2) to examine the influence of water diuresis in healthy subjects, and the influence of sodium diuresis (high sodium intake) and an intravenous administration of furosemide on the urinary excretion of VB(6) and OA in CKD stage 3-4 patients; and (3) to evaluate the influence of erythropoietin treatment on erythrocyte VB(6) (effect of PLP) in hemodialysis (HD) patients, and the influence of continuous ambulatory peritoneal dialysis (CAPD) therapy on plasma VB(6) and OA and their peritoneal clearance and transfer. "
9. EnalaprilFDA LinkGeneric
10. HormonesIBA

Therapies and Procedures

1. Liver Transplantation
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Transplantation (Transplant Recipients)
4. Enzyme Replacement Therapy
5. Renal Dialysis (Hemodialysis)