Porphyria Profile - Urine Spot

This test measures the levels of Aminolevulinic acid (ALA) and porphobilinogen (PBG) in your urine.

• To diagnose and monitor various types of porphyria • To evaluate the effectiveness of treatment for porphyria • To identify the presence of porphyria in individuals with symptoms such as abdominal pain, neurological symptoms, or skin sensitivity to sunlight • To assess the risk of developing acute attacks in those with a family history of porphyria

Your doctor may recommend this test if you have • symptoms suggestive of porphyria such as abdominal pain, nausea, fatigue, or skin photosensitivity, • a family history of porphyria, • unexplained neurologic symptoms or anaemia, or • a need to evaluate the effectiveness of treatment for porphyria.

Abnormal results may indicate various types of porphyria, such as acute intermittent porphyria or porphyria cutanea tarda.

During this test, you will have to collect your fresh urine sample in a container. This sample will be sent to a laboratory for testing.

Follow any specific instructions provided by your doctor regarding dietary restrictions or medication adjustments. Inform your doctor if you have any specific requirements.

• Blood tests to measure levels of additional porphyrins and heme precursors • Genetic testing to identify specific gene mutations associated with different types of porphyria • Liver function tests to assess liver involvement • Skin biopsy to evaluate skin-related symptoms

Urine ALA and PBG test

Porphyria is a group of rare genetic disorders that affect the production of heme, a component of haemoglobin. These disorders result in the accumulation of certain chemicals called porphyrins, which can cause symptoms such as abdominal pain, neurological problems, and skin photosensitivity.