Overview
Disorder of copper metabolism is a broad term that covers a group of rare conditions where the body cannot properly handle copper. Copper is a trace mineral that your body needs in small amounts for many important functions, including making energy, building connective tissue, and supporting your brain and immune system. When copper metabolism goes wrong, the body may accumulate too much copper in organs like the liver and brain, or it may not have enough copper to function properly. The two most well-known disorders of copper metabolism are Wilson disease and Menkes disease. In Wilson disease, copper builds up in the liver, brain, and other organs, causing liver damage, neurological problems, and psychiatric symptoms. In Menkes disease, the body cannot absorb enough copper from food, leading to severe developmental delays, weak muscles, and brittle hair. Other rarer forms also exist. Symptoms vary widely depending on the specific condition but can include liver problems, movement difficulties, tremors, personality changes, and developmental delays. Treatment depends on the underlying cause. For Wilson disease, medications like penicillamine, trientine, and zinc can help remove excess copper or block its absorption. For Menkes disease, copper injections may be given, though outcomes remain limited. Early diagnosis and treatment are critical to preventing permanent organ damage.
Key symptoms:
Liver disease or jaundice (yellowing of skin and eyes)Tremors or shakingDifficulty with coordination and balanceDifficulty speaking or swallowingPersonality or mood changesFatigue and weaknessAbdominal pain or swellingKayser-Fleischer rings (brownish rings around the colored part of the eye)Developmental delays in childrenSeizuresBrittle or kinky hairLow muscle tone in infantsPoor weight gain or failure to thriveBone abnormalitiesAnemia
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
2 eventsIndonesia University — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of copper metabolism.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Disorder of copper metabolism at this time.
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Rare Disease Specialist
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 copper metabolism.
Community
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Start the conversation →Latest news about Disorder of copper metabolism
Disease timeline:
New recruiting trial: Copper Supplementation in Cirrhosis
A new clinical trial is recruiting patients for Disorder of copper metabolism
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which specific type of copper metabolism disorder do I or my child have?,What genetic test results confirm the diagnosis, and should other family members be tested?,What are the treatment options, and what side effects should I watch for?,How often will blood tests and monitoring be needed?,Are there specific foods I need to avoid or dietary changes I should make?,What are the warning signs that I should go to the emergency room?,Are there any clinical trials or new treatments being studied that might be appropriate?
Common questions about Disorder of copper metabolism
What is Disorder of copper metabolism?
Disorder of copper metabolism is a broad term that covers a group of rare conditions where the body cannot properly handle copper. Copper is a trace mineral that your body needs in small amounts for many important functions, including making energy, building connective tissue, and supporting your brain and immune system. When copper metabolism goes wrong, the body may accumulate too much copper in organs like the liver and brain, or it may not have enough copper to function properly. The two most well-known disorders of copper metabolism are Wilson disease and Menkes disease. In Wilson diseas
Which specialists treat Disorder of copper metabolism?
9 specialists and care centers treating Disorder of copper metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.