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What is Acute intermittent porphyria?

What is Acute intermittent porphyria?

  • Acute intermittent porphyria: A rare metabolic disorder characterized by a deficiency in the porphobilinogen deaminase enzyme which results in a build-up of porphyrins or its precursors in the body. Using certain drugs or eating certain foods can trigger the symptoms of the condition.
  • Acute intermittent porphyria: 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.
    Source - Diseases Database

Acute intermittent porphyria is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Acute intermittent porphyria, or a subtype of Acute intermittent porphyria, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Acute intermittent porphyria: Introduction

Types of Acute intermittent porphyria:

Broader types of Acute intermittent porphyria:

How serious is Acute intermittent porphyria?

Prognosis of Acute intermittent porphyria: variable duration of attacks which are occasionally fatal
Complications of Acute intermittent porphyria: see complications of Acute intermittent porphyria

What causes Acute intermittent porphyria?

Causes of Acute intermittent porphyria: see causes of Acute intermittent porphyria

What are the symptoms of Acute intermittent porphyria?

Symptoms of Acute intermittent porphyria: see symptoms of Acute intermittent porphyria

Complications of Acute intermittent porphyria: see complications of Acute intermittent porphyria

Can anyone else get Acute intermittent porphyria?

More information: see contagiousness of Acute intermittent porphyria
Inheritance: see inheritance of Acute intermittent porphyria

Acute intermittent porphyria: Testing

Diagnostic testing: see tests for Acute intermittent porphyria.

Misdiagnosis: see misdiagnosis and Acute intermittent porphyria.

How is it treated?

Doctors and Medical Specialists for Acute intermittent porphyria: Medical Geneticist ; see also doctors and medical specialists for Acute intermittent porphyria.
Treatments for Acute intermittent porphyria: see treatments for Acute intermittent porphyria
Research for Acute intermittent porphyria: see research for Acute intermittent porphyria

Name and Aliases of Acute intermittent porphyria

Main name of condition: Acute intermittent porphyria

Other names or spellings for Acute intermittent porphyria:

Swedish type porphyria, pyrroloporphyria, AIP, Porphobilinogen deaminase deficiency, PBGD deficiency, Uroporphyrinogen synthase deficiency, UPS deficiency, Porphyria, Swedish type

AIP, PBG deaminase deficiency, Porphobilinogen deaminase deficiency, Pyrroloporphyria, Uroporphyrinogen synthase deficiency Source - Diseases Database

AIP, PBGD deficiency, Porphobilinogen deaminase deficiency, Porphyria, Swedish type, UPS deficiency, Uroporphyrinogen synthase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Acute intermittent porphyria: Related Conditions

Research the causes of these diseases that are similar to, or related to, Acute intermittent porphyria:

 

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