Overview
Sterol metabolism disorders (Orphanet code 79226) are a group of rare inherited conditions where the body cannot properly process or break down sterols — a family of fatty substances that includes cholesterol and related compounds. Sterols are essential building blocks for cell membranes, hormones, and bile acids, so when the body cannot handle them correctly, a wide range of organs and systems can be affected. The liver, nervous system, and cardiovascular system are often the most impacted. Depending on the specific type of sterol metabolism disorder, symptoms can vary widely. Some people develop liver disease, yellowing of the skin (jaundice), or problems absorbing fats from food. Others may experience neurological problems such as difficulty with movement, coordination, or thinking. Some forms cause fatty deposits to build up in tendons, blood vessels, or the brain over time. Treatment depends on the specific disorder within this group. Some forms can be managed with dietary changes, cholesterol-lowering medications, or bile acid replacement therapy. Early diagnosis is very important because starting treatment early can slow or prevent serious complications. Research into new therapies is ongoing, and specialist care from a metabolic geneticist is strongly recommended.
Key symptoms:
Yellowing of the skin or eyes (jaundice)Fatty deposits or lumps under the skin or in tendons (xanthomas)Difficulty with balance and coordinationIntellectual disability or learning difficultiesLiver disease or enlarged liverDiarrhea or difficulty absorbing fats from foodPremature hardening of the arteries (atherosclerosis)Cataracts (clouding of the eye lens)Muscle weakness or stiffnessSeizuresBehavioral or psychiatric changesPoor growth in childrenAbnormal cholesterol or sterol levels in blood tests
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 eventsUniversity of Valencia — NA
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Sterol metabolism disorder.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 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
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Sterol metabolism disorder.
Community
No community posts yet. Be the first to share your experience with Sterol metabolism disorder.
Start the conversation →Latest news about Sterol metabolism disorder
Disease timeline:
New recruiting trial: Plant Sterols on Cardiovascular Markers, Microbiota and Sterol Metabolism (Cardiofoodsterol)
A new clinical trial is recruiting patients for Sterol metabolism disorder
New trial: Study of Skeletal Disorders
Phase NA trial recruiting.
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 sterol metabolism disorder do I have, and how does it differ from others in this group?,What genetic testing should I and my family members have done?,What treatment options are available for my specific condition, and are any of them disease-modifying?,Are there any dietary changes I need to make, and should I see a metabolic dietitian?,What symptoms should prompt me to seek emergency care?,How often do I need follow-up appointments and monitoring tests?,Are there any clinical trials or new treatments I should know about?
Common questions about Sterol metabolism disorder
What is Sterol metabolism disorder?
Sterol metabolism disorders (Orphanet code 79226) are a group of rare inherited conditions where the body cannot properly process or break down sterols — a family of fatty substances that includes cholesterol and related compounds. Sterols are essential building blocks for cell membranes, hormones, and bile acids, so when the body cannot handle them correctly, a wide range of organs and systems can be affected. The liver, nervous system, and cardiovascular system are often the most impacted. Depending on the specific type of sterol metabolism disorder, symptoms can vary widely. Some people de
Are there clinical trials for Sterol metabolism disorder?
Yes — 1 recruiting clinical trial is currently listed for Sterol metabolism disorder on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Sterol metabolism disorder?
25 specialists and care centers treating Sterol metabolism disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.