Author Archives: Brian Murphy, Ph.D.

Porphyria and Vaccines

People with rare diseases may well be concerned about the safety of vaccines, especially those newly developed against COVID-19. Here is some information about vaccines, and risks associated with their use in people with porphyria. What is Porphyria? Porphyria is a group of diseases related to the production of heme.

FAQs About Bone Marrow Transplant for Porphyria

Porphyria is a group of rare diseases related to the production of a molecule called heme. Each type of porphyria is associated with a different mutation, affecting an enzyme in the metabolic pathway of heme production. As a result, high levels of heme precursors called porphyrins, accumulate in different parts…

FAQs About Liver Transplant for Porphyria

Porphyria is a family of metabolic disorders largely caused by mutations in the genes that regulate the body’s production of a molecule called heme. Your cells are unable to change compounds called porphyrins or porphyrin precursors into heme. Depending on the type of porphyria you have, your liver…

Porphyria and Your Liver

People with certain types of porphyria may have problems with their liver. The following information may help you understand the link between porphyria and liver damage, the problems the disease can cause, and how doctors may treat them. How porphyria involves the liver Porphyria is a group of related genetic…

Porphyria and Seizures

An estimated 10 to 20% of people with acute porphyria experience seizures, which can be life-changing and lead to many complications. What is porphyria? Porphyria is a group of genetic disorders that all result from the dysfunction of the metabolic pathway that produces heme. Heme is an integral part…

Which Type of Porphyria Do I Have?

Porphyria refers to a group of related disorders caused by a disruption in one of the steps involved in creating a protein called heme. Heme is an integral part of hemoglobin, the molecule that carries oxygen inside red blood cells. There are eight main types of porphyria. The…

Genetic Counseling for Porphyria

Porphyria is the name given to a set of rare genetic disorders that can affect the nervous system (acute prophyria), the skin (cutaneous), or both. Genetic counseling can help you learn more about your disease type, and help to guide you in understanding how the disease might affect your life…