Why would someone get tested for porphyria?

Porphyrin testing is used to help diagnose and sometimes to monitor porphyrias. These disorders can be classified into two groups based on signs and symptoms: neurologic porphyrias and cutaneous porphyrias. As some porphyrias can have similar symptoms, testing is also used to help determine which type is present.

What kind of blood test do you need for porphyria?

If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen and delta-aminolevulinic acids, as well as other porphyrins. Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in the liquid part of your blood (plasma).

What are the different types of porphyria disease?

There are several different types of porphyria, which are classified into two categories: hepatic and erythropoietic. Hepatic forms of the disorder are caused by problems in the liver and are associated with symptoms such as abdominal pain and problems with the central nervous system. Erythropoietic forms are caused by problems in RBCs.

Is it normal to have too much porphyrin in your blood?

It’s normal to have a small amount of porphyrins in your blood and other body fluids. But too much porphyrin may mean you have a type of porphyria. Porphyria is a rare disorder that can cause serious health problems.

What does a negative Ala test mean for porphyria?

While negative test results mean that it is unlikely that a patient’s symptoms are caused by a porphyria, positive initial tests should be confirmed with follow-up testing. ALA and PBG are significantly increased in most patients with an acute porphyria. ALA is less specific than PBG, as it may be elevated in other conditions as well.

If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen and delta-aminolevulinic acids, as well as other porphyrins. Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in the liquid part of your blood (plasma).

It’s normal to have a small amount of porphyrins in your blood and other body fluids. But too much porphyrin may mean you have a type of porphyria. Porphyria is a rare disorder that can cause serious health problems.

Can a person have porphyria and never have symptoms?

You might have what’s called latent porphyria, and never have symptoms. This is the case for most carriers of the abnormal genes. Porphyria cutanea tarda (PCT) typically is acquired rather than inherited, although the enzyme deficiency may be inherited.

What kind of metabolic disorder is acute intermittent porphyria?

General Discussion. Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by deficiency of the enzyme as hydroxymethylbilane synthase (also known as porphobilinogen deaminase).