Aminolvulinic Acid Test

The Aminolvulinic-Acid, also known as Porphyrin, test helps in diagnosing and sometimes monitoring porphyrias. This test measures porphyrins and their precursors in urine, blood, and stool. Porphyrins are a group of compounds defined by their chemical structure. These compounds are by-products of heme synthesis and are normally present at low concentrations in blood and other body fluids. This test can be done when you have symptoms that suggest a neurologic porphyria, for example abdominal pain, tingling or numbness in the hands or feet, or a cutaneous porphyria, for example redness, blistering, or scarring of sun-exposed skin.

It is recommended that you should either wear a sleeve-less or a short-sleeved shirt. Wearing a shirt with full-sleeves that can easily be rolled-up is also fine. You can eat and drink normally. Refrain from alcohol consumption 24 hours prior to collection. If a neurologic porphyria is suspected, the sample should be collected during an acute attack. The sample could be blood, 24-hour urine, and/or stool.

The Aminolvulinic-Acid or Porphyrin test 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, the test is also used to help determine which type is present. A healthcare practitioner will choose individual tests based on the affected person's signs and symptoms as well as the medical and family history.

The test procedure includes the following: The lab technician collects a blood sample that is drawn from a vein in your arm, a random or 24-hour urine sample, and/or a stool sample. Diagnose the presence of neurological porphyrias. Diagnose the presence of cutaneous porphyrias. Enzyme testing may be done to confirm the diagnosis of acute intermittent porphyria. Genetic testing may be done to diagnose the presence of porphyrias.