Porphyria Center

The UTMB Health Porphyria Center has a longstanding interest in the human porphyrias. We focus on research and development of new therapies, and on strengthening the evidence for existing therapies.

Because there are few specialists nationwide with the adequate experience to diagnose and manage porphyria, we provide advice to patients and physicians to improve the accuracy of diagnoses and improve treatment. This engagement with the extended community of porphyria patients also helps us to highlight issues for further research.

We primarily design and conduct prospective studies, and these require significant numbers of well-characterized patients with whom we have positive ongoing relationships. The services we provide have helped us to be able to recruit the numbers of patients necessary to conduct our research.

What are the human porphyrias?

The human porphyrias are rare disorders that result from alterations in the enzymes that synthesize heme.

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Our laboratory is the only facility in the United States at an academic institution that is certified to accept samples for diagnostic biochemical testing. Upon completion of testing, we issue reports that include detailed interpretations of our results.

In addition, we are available to interact frequently with patients, family members, and physicians at a distance, and provide advice on diagnosis and treatment.

Our Team