Overview
Disorders of porphyrin and heme metabolism are a group of conditions that affect how your body makes heme, an important molecule found in red blood cells that carries oxygen throughout your body. Heme is built through a series of chemical steps, and when one of these steps does not work properly, substances called porphyrins or their precursors can build up in the body. This buildup can cause a wide range of symptoms depending on which step is affected. There are several types of porphyrias and related heme disorders. Some types mainly affect the skin, causing blistering, pain, or sensitivity to sunlight. Other types primarily affect the nervous system, leading to episodes of severe abdominal pain, nausea, vomiting, confusion, seizures, and muscle weakness. Some forms can affect both the skin and the nervous system. Symptoms can range from mild to life-threatening. Treatment depends on the specific type of disorder. For acute attacks involving the nervous system, intravenous hemin (such as Panhematin) and glucose loading are standard treatments. For skin-related forms, avoiding sunlight and using protective clothing are important. Some newer therapies, such as givosiran (Givlaari) for acute hepatic porphyrias, have been approved and represent significant advances. Early diagnosis and avoidance of known triggers — such as certain medications, alcohol, fasting, and hormonal changes — are key to managing these conditions effectively.
Key symptoms:
Severe abdominal pain that comes in episodesNausea and vomitingSkin blistering after sun exposureSkin that is very sensitive to sunlightDark or reddish-colored urineMuscle weaknessConfusion or changes in mental stateSeizuresConstipationRapid heartbeatHigh blood pressure during attacksNumbness or tingling in hands and feetAnxiety or restlessnessScarring on sun-exposed skinChronic pain
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
4 eventsDisc Medicine, Inc — PHASE3
Portal Therapeutics, Inc. — PHASE2
The University of Texas Medical Branch, Galveston
Nordlandssykehuset HF
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of porphyrin and heme metabolism.
4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of porphyrin and heme metabolism.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of porphyria do I have, and which gene is affected?,What are my personal triggers, and how can I avoid them?,Which medications are safe for me to take, and which should I avoid?,Am I a candidate for givosiran (Givlaari) or other preventive treatments?,How often should I have my liver and kidney function checked?,Should my family members be tested for this condition?,What should I do if I think I am having an acute attack — what is my emergency plan?
Common questions about Disorder of porphyrin and heme metabolism
What is Disorder of porphyrin and heme metabolism?
Disorders of porphyrin and heme metabolism are a group of conditions that affect how your body makes heme, an important molecule found in red blood cells that carries oxygen throughout your body. Heme is built through a series of chemical steps, and when one of these steps does not work properly, substances called porphyrins or their precursors can build up in the body. This buildup can cause a wide range of symptoms depending on which step is affected. There are several types of porphyrias and related heme disorders. Some types mainly affect the skin, causing blistering, pain, or sensitivity
Are there clinical trials for Disorder of porphyrin and heme metabolism?
Yes — 4 recruiting clinical trials are currently listed for Disorder of porphyrin and heme metabolism on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Disorder of porphyrin and heme metabolism?
23 specialists and care centers treating Disorder of porphyrin and heme metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.