How do you remember porphyria types?

Mnemonic

1. All = Acute Intermittent Porphyria (PB deaminase)
2. Congenital = Congenital Erythropoietic Porphyria (Uroporphyrinogen III synthase)
3. Porphyria = Porphyria Cutanea Tarda (Uroporphyrinogen decarboxylase)
4. Comprise = Coproporphyria (Coproporphyrinogen oxidase)

What is acute intermittent porphyria caused by?

AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones , drugs, and dietary changes may trigger symptoms.

What is the test used to confirm acute intermittent porphyria?

The most commonly measured enzyme is porphobilinogen deaminase (PBG-D) in red blood cells, which tests for acute intermittent porphyria. A few laboratories offer genetic testing for specific gene variants that cause one of the porphyrias, but this type of testing is not widely available.

How is acute intermittent porphyria inherited?

How is acute intermittent porphyria (AIP) inherited? AIP is inherited in an autosomal dominant fashion, which means only one of the two HMBS genes needs to have a disease-causing mutation to decrease enzyme activity and cause symptoms.

Can you have two types of porphyria?

There are two general categories of porphyria: acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin.

What is acute porphyria?

Acute porphyrias are a group of rare disorders characterized by an enzymatic defect in the heme biosynthetic pathway. Patients present with acute, debilitating, and at times life-threatening symptoms that may be precipitated by medications, hormonal changes, starvation, or other factors.

How do you treat AIP?

Treatment for AIP also includes drugs to treat specific symptoms such as certain pain medications (analgesics), anti-anxiety drugs, anti-hypertensive drugs, and drugs to treat nausea and vomiting, tachycardia, or restlessness.

How many people have variegate porphyria?

Some reports suggest that variegate porphyria affects more women than men. The incidence is estimated to occur in 1 in 100,000 individuals in the general population in European populations. The disorder occurs with the greatest frequency in South Africa in individuals of Dutch ancestry due to a founder effect.

Can porphyria go into remission?

With treatment, most people go into remission, meaning they don’t have symptoms after their skin is exposed to sunlight and their porphyrin levels return to normal. To help people go into and stay in remission, doctors also recommend avoiding or eliminating factors that can cause porphyria cutanea tarda.

Why is porphyria an autosomal recessive disorder?

Porphyria is caused as a result of diminished feedback inhibition by end-product due to enzyme deficiencies. Hence, these are autosomal dominant disorders with exception to Congenital Erythropoietic Porphyria which is autosomal recessive.

What does protoporphyrin IX stand for in heme?

Heme is a ferro-proto-porphyrin. Protoporphyrin IX = porphyrin with attachment to 4 Methyl, 2 Propionyl and 2 Vinyl groups. If playback doesn’t begin shortly, try restarting your device. Videos you watch may be added to the TV’s watch history and influence TV recommendations. To avoid this, cancel and sign in to YouTube on your computer.

Which is the first porphyrin of the pathway?

Hydroxymethylbilane is the 1st porphyrin of the pathway (absorbs light and cause photosensitivity) Now, we have 4 pyrrole rings arranged linearly. 5. Hydroxymethylbilane = Uroporphyrinogen III 6. Uroporphyrinogen III = Coproporphyrinogen III 7. Coproporphyrinogen III leaves cytosol and enters back into mitochondria 8.