Overview
Familial benign copper deficiency is an extremely rare inherited condition in which the body has lower-than-normal levels of copper in the blood, but without the severe or life-threatening complications seen in other copper deficiency disorders such as Menkes disease. Copper is an essential trace mineral that plays important roles in many body functions, including the formation of red blood cells, maintaining nerve cells, supporting the immune system, and helping the body absorb iron. In this condition, affected individuals may have low serum copper and ceruloplasmin (the main copper-carrying protein in the blood), but they generally do not develop the serious neurological damage or connective tissue problems that occur in more severe forms of copper metabolism disorders. The condition is considered 'benign' because most affected individuals remain healthy or have only mild symptoms. Some people may experience mild anemia or slightly reduced immune function, but overall the prognosis is favorable. Because the condition runs in families, it is typically discovered when blood tests reveal low copper levels during routine evaluation or family screening. Treatment, when needed, may include copper supplementation, though many individuals do not require any specific therapy. The condition is important to recognize so that it is not confused with more serious copper deficiency syndromes, which would require more aggressive treatment and monitoring.
Also known as:
Key symptoms:
Low copper levels in the bloodLow ceruloplasmin levelsMild anemiaGenerally healthy appearancePossible mild fatiguePossible slightly reduced immune function
Clinical phenotype terms (12)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Familial benign copper deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial benign copper deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Familial benign copper deficiency.
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 Familial benign copper deficiency.
Community
No community posts yet. Be the first to share your experience with Familial benign copper deficiency.
Start the conversation →Latest news about Familial benign copper deficiency
No recent news articles for Familial benign copper deficiency.
Follow this condition to be notified when news becomes available.
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.How can we be sure this is the benign form and not a more serious copper deficiency disorder?,Does my child (or do I) need copper supplementation, and if so, how much and for how long?,How often should copper and ceruloplasmin levels be checked?,Should other family members be tested for this condition?,Are there any symptoms I should watch for that would suggest the condition is more serious than expected?,Is genetic testing available or recommended for our family?,Are there any dietary changes that could help maintain healthy copper levels?
Common questions about Familial benign copper deficiency
What is Familial benign copper deficiency?
Familial benign copper deficiency is an extremely rare inherited condition in which the body has lower-than-normal levels of copper in the blood, but without the severe or life-threatening complications seen in other copper deficiency disorders such as Menkes disease. Copper is an essential trace mineral that plays important roles in many body functions, including the formation of red blood cells, maintaining nerve cells, supporting the immune system, and helping the body absorb iron. In this condition, affected individuals may have low serum copper and ceruloplasmin (the main copper-carrying
How is Familial benign copper deficiency inherited?
Familial benign copper deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.