Living with Familial benign copper deficiency
A rare inherited condition with low copper levels in infants that can improve with copper supplements.
Understanding Familial benign copper deficiency
It begins in infancy. It can cause poor growth, mild anemia, repeated seizures, low muscle tone, and oily skin. GARD says symptoms are reversible or improve with copper taken by mouth. GARD notes no further reports since 1988.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Low muscle tone (hypotonia)
- Short stature
- Poor weight gain (failure to thrive)
- Mild anemia
- Acne or oily skin
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. GARD lists autosomal dominant and X-linked inheritance. It does not name the gene.
Also known as: familial benign hypocupremia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial benign copper deficiency.
Explore research for Familial benign copper deficiency
Explore actively recruiting Familial benign copper deficiency studies with HealthSpark.
Find actively recruiting studies for Familial benign copper deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial benign copper deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial benign copper deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial benign copper deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.