Acute Intermittent Porphyria: Causes & Reasons

Possible Causes for Acute Intermittent Porphyria

Acute intermittent porphyria Other names Swedish porphyria, pyrroloporphyria, intermittent acute porphyria Porphobilinogen Specialty Medical genetics Acute intermittent porphyria [en.wikipedia.org]

New gene therapy for Acute Intermittent Porphyria Angeles suffers from a severe and rare genetic disease called Acute Intermittent Porphyria (AIP). [news-medical.net]

Background Acute intermittent porphyria (AIP), due to half-normal hydroxymethylbilane synthase activity,is characterized by acute life-threatening neurologic attacks whose [jamanetwork.com]

Acute Intermittent Porphyria

Acute intermittent porphyria is a hereditary disorder characterized by deficient activity of the enzyme porphobilinogen deaminase. [ncbi.nlm.nih.gov]

Skin disease is never encountered in acute intermittent porphyria. [porphyria-professionals.uct.ac.za]

Acute intermittent porphyria Mnemonic – Medical Institution Mechanism of Acute intermittent porphyria: Approximately 90% of cases of acute intermittent porphyria are due to [medical-institution.com]

Porphyria Cutanea Tarda

Lesson on Porphyria conditions: Porphyria Cutanea Tarda vs. Acute Intermittent Porphyria. [youtube.com]

Primary porphyrias (hereditary enzyme defect) Hepatic porphyrias Acute hepatic porphyrias Acute intermittent porphyria (autosomal dominant) Porphyria variegata (autosomal [amboss.com]

[…] with abdominal symptoms and sometimes with neurologic lesions—a clinical picture similar to acute intermittent porphyria combined with light sensitivity. [annals.org]

Peripheral Motor Neuropathy

intermittent porphyria, lead poisoning, diphtheria, multifocal conduction block neuropathy Painful peripheral neuropathy “BADCAP” Diabetes mellitus Alcohol Vitamin B1 or [lifeinthefastlane.com]

Predominantly Motor Neuropathies Guillain-Barre Sydnrome and CIPD Acute intermittant porphyria Lead neuropathy Heritable motor-sensory neuropathies Motor Neuron Disease (neuronopathy [enotes.tripod.com]

intermittent porphyria Persisting nutritional deficiency Dominantly inherited sensory neuropathy CIDP Critical illness polyneuropathy Abnormal metabolic state CIDP HIV/AIDS [aafp.org]

Familial Mediterranean Fever

These include: surgical emergencies (appendicitis, intussception, perforated ulcer), hereditary angioedema, acute intermittent porphyria, relapsing pancreatitis, systemic [symptoma.com]

Differential diagnosis 1 - Surgical emergencies as appendicitis, intussusception, perforated peptic ulcer, etc. 2 - in women, gynecologic disorders. 3 - Acute intermittent [slideshare.net]

Appendicitis, intussusception, perforated peptic ulcer Hereditary angioedema Acute intermittent porphyria Relapsing pancreatitis Systemic lupus erythematosus and vasculitis [clevelandclinicmeded.com]

Mental Disorder

This review focuses on three HMD categories: acute, treatable HMDs (urea cycle abnormalities, remethylation disorders, acute intermittent porphyria); chronic, treatable HMDs [ncbi.nlm.nih.gov]

PMID 26695173. ^ "Acute Intermittent Porphyria (AIP)". American Porphyria Foundation. 18 February 2009. [en.wikipedia.org]

View Article Google Scholar Kumar B: Acute intermittent porphyria presenting solely with psychosis: a case report and discussion. [dx.doi.org]

Anxiety Disorder

View Article Google Scholar Kumar B: Acute intermittent porphyria presenting solely with psychosis: a case report and discussion. [dx.doi.org]

Varied psychiatric manifestations of acute intermittent porphyria. Biol. [ncbi.nlm.nih.gov]

Carisoprodol

Hypersensitivity to carisoprodol and related compounds (e.g., meprobamate, tybamate); acute intermittent porphyria; children Impaired liver or kidney function, addiction-prone [robholland.com]

intermittent porphyria Precautions: Use caution in renal or hepatic dysfunction. [rheumaknowledgy.com]

Acute intermittent porphyria (a hereditary condition that occurs due to absence of an enzyme ), hypersensitivity, lactation. • • It should be used only for acute treatment [medindia.net]

Thiopental

Contraindications : Acute intermittent porphyria Liver and kidney disease Severe pulmonary insufficiency. e.g. emphysema· Obstructive sleep apnoea. [doctoralerts.com]

• A history of acute intermittent or variegate porphyria. [apps.who.int]

South African) or acute intermittent porphyria. [druglib.com]

Acute Peritonitis

Non-surgical disease - eg, myocardial infarction, pericarditis, pneumonia, sickle cell crisis, hepatitis, inflammatory bowel disease, opiate withdrawal, typhoid, acute intermittent [patient.info]

porphyria, HIV-associated lymphadenopathy or enteritis. [patient.info]

Acute urinary retention. Abdominal aortic aneurysm. Testicular torsion. [patient.info]

Hepatocellular Carcinoma

Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in northern Sweden. J Intern Med. 2011;269:538-45. 17. Mitchell EL, Khan Z. [hepatitisc.uw.edu]

Acute and chronic hepatic porphyrias (acute intermittent porphyria, porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria) and tyrosinemia type I are risk [en.wikipedia.org]

intermittent porphyria. [ 10, 16, 17 ] Prognosis of Patients Diagnosed with HCC The overall prognosis for patients diagnosed with HCC in the United States has improved some [hepatitisc.uw.edu]

Guillain-Barré Syndrome

In South Africa (SA), a high incidence of variegate porphyria (VP) is seen as a result of a founder effect, but acute intermittent porphyria (AIP) is also encountered. [ncbi.nlm.nih.gov]

There would be an initial presentation of neuromuscular junction disorder, acute intermittent porphyria, HIV infection, spinal cord disorders, toxic neuropathies and even [ncbi.nlm.nih.gov]

[…] hypophosphataemia Prolonged use of neuromuscular junction blocking drugs Tick paralysis West Nile poliomyelitis Acute intermittent porphyria Functional paralysisMFS, BBE, [vdocuments.net]

Acute Pancreatitis

acute intermittent porphyria and erythropoietic protoporphyria. [en.wikipedia.org]

[…] fold higher risk.[23] Less common causes include pancreatic cancer, pancreatic duct stones,[24] vasculitis (inflammation of the small blood vessels in the pancreas), and porphyria—particularly [en.wikipedia.org]

Neurological Disorder

Acute intermittent porphyria can give rise to acute psychosis, often in association with abdominal pain. [doi.org]

Anticonvulsant

Posttraumatic epilepsy and acute intermittent porphyria: effects of phenytoin, carbamazepine, and clonazepam. Neurology 1978;28:824-8. 8. [porphyria.eu]

Treatment of seizures in acute intermittent porphyria: safety and efficacy of gabapentin. Seizure 1998;7:415-6. 3. Krijt J, Krijtova H, Sanitrak J. [porphyria.eu]

Effects of new anticonvulsant medications on porphyrin synthesis in cultured liver cells: potential implications for patients with acute porphyria. [porphyria.eu]

Aminopyrine

These function tests exhibited a statistically significant correlation with the excretion of porphyrin precursors in patients with acute intermittent porphyria. [ncbi.nlm.nih.gov]

Furthermore, all 12 patients with acute intermittent porphyria who had a liver biopsy because of abnormalities in the aminopyrine breath test or postprandial serum bile acids [ncbi.nlm.nih.gov]

Methsuximide

intermittent porphyria contraindication 234422006 DOID:3890 Disease of liver contraindication 235856003 DOID:409 Neutropenic disorder contraindication 303011007 DOID:1227 [drugcentral.org]

DOID:2848 Systemic lupus erythematosus contraindication 55464009 DOID:9074 Aggressive behavior contraindication 61372001 Kidney disease contraindication 90708001 DOID:2527 Acute [drugcentral.org]

Chlorpropamide

Chlorpropamide is dangerous in patients suffering from acute forms of porphyria, especially variegate porphyria, and to a lesser extent acute intermittent porphyria and hereditary [home.intekom.com]

Acute Intermittent Porphyria — Oral: 25 to 50 mg t.i.d. or q.i.d. [ndrugs.com]

Clorpropamida is also used to treat nausea and vomiting, anxiety before surgery, chronic hiccups, acute intermittent porphyria, and symptoms of tetanus. [ndrugs.com]

Depression

A depression in geology is a landform sunken or depressed below the surrounding area. Depressions form by various mechanisms. Erosion-related: Blowout: a depression created by wind erosion typically in either a partially vegetated sand dune ecosystem or dry soils (such as a post-glacial loess environment). Glacial[…] [en.wikipedia.org]

Sunburn

See separate related article Burns - Assessment and Management. Sunburn is a common, acute inflammatory response of skin to exposure to ultraviolet radiation (UVR). UVR causes vasodilation and release of mast cell mediators, leading to an inflammatory response. Less intense or shorter-duration exposure to UVR[…] [patient.info]

Griseofulvin

Griseofulvin may increase attacks of porphyria in patients with acute intermittent porphyria Proper Use of This Medicine Griseofulvin is best taken with or after meals, [mold-survivor.com]

This may precipitate an attack of acute intermittent porphyria in susceptible patients. [pdr.net]

[…] effects affecting the liver Lupus erythematosus or lupus-like diseases--Griseofulvin may worsen lupus symptoms in patients who have lupus erythematosus or lupus-like diseases Porphyria [mold-survivor.com]

Peripheral Neuropathy

Peripheral neuropathy Micrograph showing a vasculitic peripheral neuropathy; plastic embedded; Toluidine blue stain Specialty Neurology Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage[…] [en.wikipedia.org]

Pentobarbital

Potential exacerbation of acute intermittent porphyria or porphyria variegata. e (See Contraindications under Cautions.) [drugs.com]

[…] women who received barbiturates throughout the last trimester of pregnancy. a e Premature neonates are particularly susceptible to the depressant effects of barbiturates. e Porphyria [drugs.com]

General Anesthesia

By Barbara Mango, Ph.D. General anesthesia is administered during surgical procedures to block sensory, motor, and sympathetic nerve transmission. It induces pain relief, amnesia (loss of ability to recall the procedure), motionlessness, reduced autonomic nerve responses, slowed heart and breathing rates, and lowered[…] [nderf.org]

Porphyria

Introduction Clinical definition acute intermittent porphyria (AIP) is an inherited metabolic disease resulting from deficiency in the heme synthesis pathway porphobilinogen [medbullets.com]

Cimetidine may have a role in the treatment of acute intermittent porphyria by inhibiting heme oxidase activity, decreasing heme consumption, and inhibiting aminolevulinic [doi.org]

Paraplegia

Involuntary flexion of the lower limbs is seen in a variety of conditions. It may be due, for instance, to changes in the muscles themselves, as in the myopathic type of senile paraplegia, 1 or to the unopposed action of the flexor muscles of the hip following injury to the cauda equina. Spasm of the flexor muscles is[…] [jamanetwork.com]

Rasmussen Syndrome

Seven years later, acute intermittent porphyria was diagnosed as she developed an acute episode of abdominal pain, dark urine, and hyponatremia. [ncbi.nlm.nih.gov]

Acute intermittent porphyria and epilepsy: safety of clonazepam. Epilepsia. 1992 ;33: 108 - 111. [doi.org]

and acute intermittent porphyria. [8] Diagnosis [ edit ] Brain MRI of an 8-year-old female with Rasmussen's encephalitis. [en.wikipedia.org]

Delta Aminolevulinate Dehydrase Deficiency

the most common subtype of acute hepatic porphyria. [nature.com]

INTRODUCTION Acute intermittent porphyria (AIP) is the most common and the most severe form of acute hepatic porphyria. [content.sciendo.com]

Liver transplantation can cure acute intermittent porphyria. [merckmanuals.com]

Hepatoerythropoietic Porphyria

(rare in acute intermittent porphyria). [emedicine.medscape.com]

intermittent porphyria Most common, uroporphyrinogen I synthetase, increased dALA synthetase Acute intermittent porphyria lab findings dALA and porphobilinogen in urine, [quizlet.com]

Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. [ghr.nlm.nih.gov]

Hereditary Coproporphyria

An acute, primarily motor neuropathy can occur in several forms of porphyria, including acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria, sometimes [ncbi.nlm.nih.gov]

An association between two types of acute hepatic porphyria (porphyria variegata and acute intermittent porphyria) and hepatocellular carcinoma has previously been reported [ncbi.nlm.nih.gov]

Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. [ghr.nlm.nih.gov]