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Acute Intermittent Porphyria (Porphyria, Acute)

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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)

Experts

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 01/01/2011 - "The patient had a family history of acute intermittent porphyria (AIP) so we decided to begin treatment with hematin, achieving a complete remission of the symptoms. " 10/01/1988 - "Although hematin is frequently effective in the treatment of acute porphyria crises, it is often associated with abnormalities in coagulation and these effects also occur in normal volunteers." 02/01/1983 - "Hematin is clinically useful in the treatment of acute intermittent porphyria. " 12/01/1981 - "Hematin has been shown to be effective therapy for acute intermittent porphyria. " 02/01/1988 - "The efficacy of hematin has been evaluated in eight patients with acute intermittent porphyria: six with acute attacks and two with chronic subacute symptoms. "
2.	Heme (Haem)IBA 02/01/1982 - "Alterations in haem biosynthesis during the human menstrual cycle: studies in normal subjects and patients with latent and active acute intermittent porphyria." 09/25/1971 - "Acute intermittent porphyria: studies of the enzymatic basis of disordered haem biosynthesis." 01/01/2014 - "Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. " 01/01/2014 - "Acute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. " 05/01/2012 - "Acute intermittent porphyria (AIP) is a disorder of the heme biosynthesis pathway of a specific inherited enzymatic defect. "
3.	PorphobilinogenIBA 12/01/2008 - "Improved identification of acute porphyria requires heightened clinical awareness and access to urinary porphobilinogen measurement. " 07/01/2000 - "The goal of this study was evaluate 300 psychiatric patients and 150 control subjects to detect acute intermittent porphyria by measurement of porphobilinogen (PBG) deaminase activity in blood. " 05/01/1997 - "Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin." 09/01/2011 - "Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. " 08/15/2011 - "Accurate determinations of 5-aminolevulinic acid (ALA) and porphobilinogen (PBG) in physiologic fluids are required for the diagnosis and therapeutic monitoring of acute porphyrias. "
4.	Glucose (Dextrose)FDA LinkGeneric 11/28/2011 - "How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. " 12/01/1993 - "We report on a patient with acute intermittent porphyria (AIP) who, during treatment with hypertonic glucose, developed peripheral neuropathy. " 07/01/1985 - "Diabetic oral glucose tolerance test together with hyperinsulinemia in a patient with decompensated acute intermittent porphyria is contrasted to normal findings in compensated acute intermittent porphyria (AIP). " 01/01/2012 - "In acute attacks of acute intermittent porphyria, the mainstay of treatment is glucose and heme arginate administration. " 03/01/2012 - "Acute porphyria attacks are usually treated by the administration of glucose; its effect is apparently related to its ability to inhibit ALAS1 by modulating insulin plasma levels. "
5.	heme arginateIBA 01/01/2015 - "Prophylactic haem arginate appears to be beneficial in patients with recurrent acute porphyria symptoms, but maintaining central venous access may prove challenging. " 01/01/2015 - "Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms." 09/01/2009 - "[Neurological complications of acute intermittent porphyria precipitated by porphyrinogenic drugs and efficiency of heme-arginate treatment]." 01/01/2006 - "In the case of the acute porphyrias, by this programme and after the introduction of heme arginate in the therapy, mortality in the acute phase has become extremely rare in Sweden. " 01/01/2005 - "Mean urine precursor levels, blood pressure, pulse rate, and heme arginate requirement were all significantly higher in patients with acute intermittent porphyria. "
6.	Cimetidine (Biomet)FDA LinkGeneric 08/31/1987 - "A 43-yr-old man with abdominal fullness was treated with oral cimetidine during remission of acute intermittent porphyria. " 11/01/2005 - "Cimetidine and acute intermittent porphyria." 03/01/1997 - "Cimetidine in the treatment of acute intermittent porphyria." 08/01/1994 - "[Clinical and laboratory findings concerning at first dietary and afterwards cimetidine treatment of acute intermittent porphyria]." 04/10/1993 - "[A case of acute intermittent porphyria treated with cimetidine]."
7.	Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA 01/01/2012 - "Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria) benefits from liver gene transfer in mouse models and clinical trials are about to begin. " 04/01/2010 - "[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene]." 01/01/2006 - "De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study." 03/01/2002 - "Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria." 08/01/2001 - "Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients."
8.	Erythropoietin FDA 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.	Enalapril FDA LinkGeneric 11/01/2002 - "A study of 24-hour ambulatory blood pressure monitoring in cases of intermittent acute porphyria with hypertension: special reference to safety and efficacy of angiotensin-converting enzyme inhibitor (enalapril) therapy." 09/01/1999 - "These studies suggest that patients with acute porphyrias may be at greater risk for developing porphyric attacks when treated with nifedipine (compared with diltiazem), enalapril (compared with captopril or lisinopril), and tramadol (compared with the other analgesics)."
10.	HormonesIBA 09/01/2007 - "We report an eighteen year old female, a case of acute intermittent porphyria with syndrome of inappropriate antidiuretic hormone secretion, as presenting feature for its rarity. " 01/01/2004 - "We report the case of a 37-years-old woman with inappropriate antidiuretic hormone syndrome due to an attack of acute porphyria. " 05/24/1995 - "There is well documented evidence of the advisability of restrictiveness in the use of oestrogens in conjunction with acute porphyria, particularly in cases of patients with a history of hormone-related symptoms of acute porphyria. " 02/01/1991 - "Acute intermittent porphyria and hormone disbalance." 07/01/1990 - "Acute intermittent porphyria is a genetic disease in which endogenous hormones affect clinical expression. "

Therapies and Procedures

1.	Liver Transplantation 02/28/2004 - "Liver transplantation as a cure for acute intermittent porphyria." 01/01/2015 - "Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver." 04/19/2011 - "Liver transplantation from donors with acute intermittent porphyria." 02/01/2010 - "Liver transplantation for acute intermittent porphyria: a viable treatment?" 02/28/2004 - "We aimed to treat severe acute intermittent porphyria in a 19-year-old woman by liver transplantation. "
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 03/01/2010 - "Our study aimed to assess the protective effects of bone marrow transplantation or PBGD gene transfer into the liver against phenotypic manifestations of acute porphyria attack induced in an AIP murine model. "
3.	Transplantation (Transplant Recipients) 01/01/2014 - "Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria." 12/01/1993 - "We report our experience with eight patients with end-stage protoporphyric liver disease in whom a syndrome developed before transplantation that resembled the neurological crises of the acute porphyrias. " 06/01/2002 - "Sirolimus tolerability in a kidney transplant recipient with acute intermittent porphyria."
4.	Enzyme Replacement Therapy 01/01/2007 - "Recently, a new form of treatment based on porphobilinogen deaminase enzyme replacement therapy has been shown to be effective in an acute intermittent porphyria mouse model which, during phenobarbital (phenobarbitone) induction of haem biosynthesis, mimics the biochemical pattern of acute porphyric attacks. "
5.	Renal Dialysis (Hemodialysis) 01/01/2008 - "Hemodialysis: a therapeutic option for severe attacks of acute intermittent porphyria in developing countries." 01/01/1999 - "[Hemodialysis--is it a method of acute intermittent porphyria treatment? " 10/01/1973 - "[Hemodialysis therapy of acute intermittent porphyria]." 01/01/1967 - "[Extracorporeal hemodialysis in a case of acute intermittent porphyria]." 04/24/1964 - "[EXTRACORPOREAL HEMODIALYSIS IN ACUTE INTERMITTENT PORPHYRIA]."