Overview
Disorder of lipid metabolism (Orphanet code 309005) is a broad classification category encompassing a heterogeneous group of rare genetic conditions in which the body's ability to properly synthesize, transport, process, or break down lipids (fats and fat-like substances) is impaired. These disorders can affect multiple organ systems including the liver, cardiovascular system, nervous system, skin, muscles, and adipose tissue. Lipids play essential roles in energy storage, cell membrane structure, hormone production, and signaling, so disruptions in lipid metabolism can have widespread clinical consequences. Clinical manifestations vary widely depending on the specific underlying condition but may include abnormal blood lipid levels (dyslipidemia), hepatomegaly or liver dysfunction, xanthomas (fatty deposits in the skin or tendons), premature atherosclerosis and cardiovascular disease, neurological deterioration, failure to thrive, and metabolic crises. Some disorders within this group present in infancy or childhood, while others may not become apparent until adulthood. As this is a grouping category rather than a single disease entity, treatment approaches are highly variable and depend on the specific diagnosis. Management strategies may include dietary modifications (such as fat restriction or supplementation with specific fatty acids), lipid-lowering medications, enzyme replacement therapy for certain lysosomal storage disorders, liver transplantation, and supportive care. Genetic testing and biochemical analysis are essential for establishing a precise diagnosis within this broad category, which then guides appropriate management and genetic counseling.
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
10 eventsFirst Hospital of China Medical University — NA
University of South Carolina — NA
CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd. — PHASE3
University of Connecticut — NA
Bahria University — PHASE4
Arrowhead Pharmaceuticals — PHASE1, PHASE2
Meharry Medical College — NA
Marea Therapeutics — PHASE2
China National Center for Cardiovascular Diseases — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of lipid metabolism.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Disorder of lipid metabolism at this time.
New trials open frequently. Follow this disease to get notified.
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 lipid metabolism.
Community
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Start the conversation →Latest news about Disorder of lipid metabolism
Disease timeline:
New recruiting trial: Heart CT Imaging to Detect Early Coronary Artery Disease in First-Degree Relatives With High or Low Lipoprotein(a) Identified Through Family Screening
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: Clinical Management of Cardiovascular Risk Factors in Adult Patients: A Before-and-After Interventional Study
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: EAS Familial Hypercholesterolaemia Studies Collaboration
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: Comparison of Intensive Versus Standard Care & Education for Dyslipidemia in Hypertension and Diabetes Patients
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: A Novel Digital Tool Physicians Can Use to Prescribe Exercise to Patients With Cardiovascular Disease Risk Factors
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: Clinical Decision Support for Familial Hypercholesterolemia
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: Effects of Phytoestrogen From Pueraria Mirifica in Improvement of Serum Lipid Parameters in Postmenopausal Women
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: Ezetimibe Utilization Early After Acute Myocardial Infarction, "EzAMI Trial"
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: A Study to Evaluate COR-1004 in Adult Volunteers.
A new clinical trial is recruiting patients for Disorder of lipid metabolism
New recruiting trial: Evaluation of Milk Polar Lipids in Dyslipidemic Adults With Abdominal Obesity
A new clinical trial is recruiting patients for Disorder of lipid metabolism
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.
Common questions about Disorder of lipid metabolism
What is Disorder of lipid metabolism?
Disorder of lipid metabolism (Orphanet code 309005) is a broad classification category encompassing a heterogeneous group of rare genetic conditions in which the body's ability to properly synthesize, transport, process, or break down lipids (fats and fat-like substances) is impaired. These disorders can affect multiple organ systems including the liver, cardiovascular system, nervous system, skin, muscles, and adipose tissue. Lipids play essential roles in energy storage, cell membrane structure, hormone production, and signaling, so disruptions in lipid metabolism can have widespread clinica
Which specialists treat Disorder of lipid metabolism?
25 specialists and care centers treating Disorder of lipid metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.