Overview
Lipid storage diseases (also called lipidoses) are a group of inherited metabolic disorders where harmful amounts of fatty substances called lipids build up in the body's cells and tissues. Normally, the body uses special proteins called enzymes to break down lipids so they can be used for energy or removed. In lipid storage diseases, these enzymes are missing or not working properly, so lipids pile up in places like the brain, liver, spleen, bone marrow, and nervous system, causing damage over time. There are many different types of lipid storage diseases, including Gaucher disease, Niemann-Pick disease, Fabry disease, Tay-Sachs disease, Krabbe disease, and Farber disease, among others. Each type affects different organs and has its own pattern of symptoms. Common symptoms across the group include an enlarged liver or spleen, neurological problems such as seizures or loss of coordination, muscle weakness, pain, and in some types, intellectual decline. Treatment depends on the specific type of lipid storage disease. Some types have approved enzyme replacement therapies or substrate reduction therapies that can slow the disease. Others currently have no disease-modifying treatment, and care focuses on managing symptoms and improving quality of life. Research is ongoing, and gene therapy approaches are being studied for several types.
Key symptoms:
Enlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)SeizuresLoss of muscle coordination or balance problemsMuscle weakness or loss of muscle toneIntellectual disability or developmental regressionBone pain or bone fracturesSkin rashes or skin color changesVision loss or eye movement problemsHearing lossFatigue and low energyDifficulty swallowingLung problems or breathing difficultiesAnemia or low blood countsPain in the hands and feet (especially in Fabry disease)
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Lipid storage disease.
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Rare Disease Specialist
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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 Lipid storage disease.
Community
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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 lipid storage disease has been diagnosed, and what does that mean for my child's or my future?,Is there an approved treatment for this specific type, and would my child or I qualify for it?,Are there any clinical trials or experimental therapies we should consider?,What specialists should be part of our care team, and how often should we be seen?,Should other family members be tested for this condition or for carrier status?,What early warning signs of disease progression should prompt us to seek urgent care?,Are there patient advocacy groups or support communities you recommend we connect with?
Common questions about Lipid storage disease
What is Lipid storage disease?
Lipid storage diseases (also called lipidoses) are a group of inherited metabolic disorders where harmful amounts of fatty substances called lipids build up in the body's cells and tissues. Normally, the body uses special proteins called enzymes to break down lipids so they can be used for energy or removed. In lipid storage diseases, these enzymes are missing or not working properly, so lipids pile up in places like the brain, liver, spleen, bone marrow, and nervous system, causing damage over time. There are many different types of lipid storage diseases, including Gaucher disease, Niemann-
Which specialists treat Lipid storage disease?
19 specialists and care centers treating Lipid storage disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.