Acute intermittent porphyria

What is Acute Intermittent Porphyria? Acute Intermittent Porphyria (AIP) is an inherited genetic condition. The genetic mutations that cause AIP are in the HMBS gene. They result in the genes to produce too little of the enzyme hydroxymethylbilane synthase (also ...1

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Symptoms of Acute intermittent porphyria

This buildup can cause the pain attacks of AIP, but about 80-90% of patients with AIP mutations will not develop symptoms. When patients do suffer an attack, they will usually experience severe abdominal pain. This is often extremely painful ...2

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Complications of Acute intermittent porphyria

Patients with AIP also have a slightly increased risk than the general population of developing liver cancer, called hepatocellular carcinoma. ...Source: RDCRN (NCATS/NIH)3 ...

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Causes of Acute intermittent porphyria

Cause: AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase.[1] The deficiency of PBGD is caused by a mutation in the HMBS ...4

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Causes List for Acute intermittent porphyria

Some possible causes of Acute intermittent porphyria or similar disorders may include:5

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Types of Acute intermittent porphyria

Some types of this condition may include:6 Types of acute intermittent porphyria:

  • Porphyria, Acute Intermittent, Nonerythroid Variant
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Diagnosis of Acute intermittent porphyria

How is Acute Intermittent Porphyria diagnosed? There are two types of testing; biochemical, meaning looking for “biomarkers” in the blood or urine, and genetic, meaning looking at the gene we know causes the disease directly from a blood sample. Biochemical ...7

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Genetics of Acute intermittent porphyria

Type - Inheritance -- Deficient Enzyme -- Gene Acute Intermittent Porphyria (AIP) -- Autosomal dominant -- Hydroxymethylbilane synthase (Porphobilinogen deaminase) -- MBS ...Source: RDCRN (NCATS/NIH)8 ...

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Treatments: Acute intermittent porphyria

What are treatments for Acute Intermittent Porphyria? AIP attacks can be triggered by a number of factors. One known trigger is progesterone, a hormone which naturally increases in women during their menstrual cycle. Female AIP patients are more likely to ...9

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Names and Terminology

Related Diseases: The following diseases are related to Acute intermittent porphyria. If you have a question about any of these diseases, you can contact GARD ...10

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  1. Source: RDCRN (NCATS/NIH): cms/ porphyrias/ Learn-More/ Disorder-Definitions
  2. ibid.
  3. ibid.
  4. Source: GARD (NIH): diseases/ 5732/ acute-intermittent-porphyria
  5. Source: Algorithmically Generated List
  6. Source: NCI Thesaurus
  7. Source: RDCRN (NCATS/NIH): cms/ porphyrias/ Learn-More/ Disorder-Definitions
  8. ibid.
  9. ibid.
  10. Source: GARD (NIH): diseases/ 5732/ acute-intermittent-porphyria

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