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What's UP Doc? Enzymes and porphyria

  • Apr 15, 2022
  • Acute Porphyrias, CEP, EPP/XLP, PCT, What's UP Doc


What's UP Doc? Is a monthly column where we feature a patient question along with a response from a member of the UPA Scientific Advisory Board.

Do you have a question you would like to ask a Porphyria Expert?  Send us an email at We’d love to hear from you!


What are enzymes and why they are important in the porphyrias?

The porphyrias are a group of rare, genetic disorders. People living with a porphyria have changes to certain genes, called mutations, which affect their body’s ability to regulate itself. 

In the porphyrias, these mutations are in the genes involved in a certain chemical pathway, called the heme biosynthetic pathway. Heme is a compound that the body needs to make hemoglobin and there are several steps to make this compound in the body. Each type of porphyria is caused by a defect in a specific enzyme in the heme biosynthetic pathway. Without these enzymes working properly, the body is not able to finish making heme and it causes a buildup of other compounds, called porphyrins. It is the buildup of different types of porphyrins that causes the different types of porphyria and associated symptoms.

We developed an online module based on input from geneticists of the Porphyrias Consortium as a tool to explain. Please visit What is Porphyria? to access the module!

You may notice a similarity to the United Porphyrias logo!