Overview
Sphingolipidosis is a group of inherited metabolic diseases where the body cannot properly break down fatty substances called sphingolipids. These fats build up in cells — especially in the brain, liver, spleen, and bone marrow — causing damage over time. The group includes several well-known conditions such as Gaucher disease, Niemann-Pick disease, Fabry disease, Krabbe disease, Metachromatic leukodystrophy (MLD), GM1 and GM2 gangliosidoses (including Tay-Sachs and Sandhoff disease), and Farber disease. Each condition is caused by a missing or faulty enzyme that normally clears away a specific type of sphingolipid. Symptoms vary widely depending on which specific disease a person has, but common problems include an enlarged liver and spleen, neurological decline, muscle weakness, bone pain, and vision or hearing loss. Some forms mainly affect the nervous system, while others affect many organs throughout the body. Treatment depends on the specific type of sphingolipidosis. Some forms, like Gaucher disease and Fabry disease, have approved enzyme replacement therapies that can significantly improve quality of life. Others currently have no disease-modifying treatment, and care focuses on managing symptoms. Research into gene therapy and substrate reduction therapy is ongoing and offers hope for the future.
Key symptoms:
Enlarged liver and/or spleen (belly swelling)Neurological decline or regression (loss of skills previously learned)Muscle weakness or poor muscle toneBone pain or frequent fracturesVision loss or cherry-red spot seen on eye examHearing lossSeizuresIntellectual disability or developmental delayFatigue and low energySkin rashes or abnormal skin changesDifficulty swallowing or feeding problemsHeart problems (thickened heart muscle or valve disease)Kidney problemsPainful episodes in hands and feet (burning pain)
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
1 eventUniversity of California, San Francisco
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Sphingolipidosis.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
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 Sphingolipidosis.
Community
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Start the conversation →Latest news about Sphingolipidosis
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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 sphingolipidosis does my family member have, and how does that affect their outlook?,Is there an approved treatment for this specific type, and would my family member qualify for it?,What monitoring tests and how often will be needed to track disease progression?,Are there clinical trials we should consider enrolling in?,Should other family members be tested as carriers or for early disease?,What therapies — physical, occupational, speech — would help maintain quality of life?,What signs should prompt us to go to the emergency room immediately?
Common questions about Sphingolipidosis
What is Sphingolipidosis?
Sphingolipidosis is a group of inherited metabolic diseases where the body cannot properly break down fatty substances called sphingolipids. These fats build up in cells — especially in the brain, liver, spleen, and bone marrow — causing damage over time. The group includes several well-known conditions such as Gaucher disease, Niemann-Pick disease, Fabry disease, Krabbe disease, Metachromatic leukodystrophy (MLD), GM1 and GM2 gangliosidoses (including Tay-Sachs and Sandhoff disease), and Farber disease. Each condition is caused by a missing or faulty enzyme that normally clears away a specifi
Are there clinical trials for Sphingolipidosis?
Yes — 1 recruiting clinical trial is currently listed for Sphingolipidosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Sphingolipidosis?
15 specialists and care centers treating Sphingolipidosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.