Medical Genomics / Clinical Genetics


What is Porphyria?

The “porphyrias” are a group of metabolic disorders caused by an abnormality in the body’s heme synthesis pathway. Symptoms of the different pophyrias are caused when there is an overproduction of chemicals called porphyrins and other precursors in the heme synthesis pathway. Porphyrins accumulate in the body and are excreted at high levels in the urine and stool. The porphyrias are grouped into two main groups, the “acute” porphyrias and the “cutaneous” (skin) porphyrias. In acute porphyrias this accumulation can cause an acute episode with peripheral and central nervous system symptoms such as abdominal pain. In the cutaneous porphyrias, the build up of different porphyrins results in sunlight sensitivity and skin symptoms.
Most types of porphyria have an underlying genetic cause, which has been inherited in the family. It may therefore be important to share details of your diagnosis of porphyria with your family members, who may also be at risk of inheriting porphyria.

Testing for Porphyria

Analysis of porphyrin levels in the blood, urine and stool is important for making a diagnosis of prophyria. Once a diagnosis of porphyria has been made, depending on the type of porphyria detected, genetic testing may be helpful for you and your family.

Porphyria Clinic at RPAH

The Porphyria Clinic is led by A/Professor Peter Stewart. To book an appointment at the clinic, we require a referral letter accompanied by your porphyrin test results (blood, urine and stool). Telephone and telehealth consultations can be arranged for remote patients. For further information about our service or to discuss a referral please contact Genetic Counsellor, Catherine Spinks on 02 9515 5062 or catherine.spinks@health.nsw.gov.au.

Genetic testing for Porphyria

All requests for Porphyria Genetic testing are reviewed by Professor Stewart before testing is undertaken.
Diagnostic genetic testing can be ordered by Clinical Geneticists and Clinical Biochemists who are clinically responsible for the patient.

Relatives from families with a confirmed genetic diagnosis of porphyria seeking predictive testing should see a clinical geneticist/genetic counsellor prior to testing. For further information please contact Genetic Counsellor, Catherine Spinks on 02 9515 5062 or catherine.spinks@health.nsw.gov.au.