Overview
Disorder of phospholipids, sphingolipids, and fatty acids biosynthesis with peripheral nerves predominant involvement is a group of rare inherited metabolic conditions that affect how the body makes certain types of fats (lipids). These lipids — including phospholipids, sphingolipids, and fatty acids — are essential building blocks of nerve cell membranes, particularly the myelin sheath that insulates peripheral nerves (the nerves outside the brain and spinal cord). When the body cannot properly produce these lipids, the peripheral nerves become damaged or do not function correctly, leading to a condition similar to peripheral neuropathy. Patients typically experience numbness, tingling, weakness, and pain in the hands and feet that can gradually spread. Some individuals may also have difficulty with balance and coordination. The severity and age of onset can vary depending on the specific genetic cause. Because these disorders affect lipid metabolism at a fundamental level, the symptoms tend to be progressive, meaning they may worsen over time. Currently, there are no curative treatments for most conditions in this group. Management focuses on symptom relief, physical therapy to maintain mobility and strength, pain management, and supportive care. Research is ongoing to better understand the underlying mechanisms and develop targeted therapies. Early diagnosis through genetic testing is important to guide management and provide families with accurate genetic counseling.
Key symptoms:
Numbness or tingling in hands and feetMuscle weakness in the arms and legsBurning or shooting nerve painDifficulty walking or balance problemsLoss of sensation in the extremitiesMuscle wasting, especially in the lower legsReduced reflexesFoot deformities such as high arches or hammertoesDifficulty with fine motor tasks like buttoning clothesFatigueSensitivity to cold temperaturesCramping in the legs or feet
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 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement.
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Specialists
View all specialists →No specialists are currently listed for Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement.
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 phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of lipid biosynthesis disorder do I have, and which gene is affected?,How quickly is this condition likely to progress in my case?,What therapies or treatments can help manage my symptoms right now?,Should my family members be tested for this condition?,Are there any clinical trials or experimental treatments I might be eligible for?,What specialists should I see regularly, and how often?,What can I do at home to slow down the progression or maintain my function?
Common questions about Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
What is Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement?
Disorder of phospholipids, sphingolipids, and fatty acids biosynthesis with peripheral nerves predominant involvement is a group of rare inherited metabolic conditions that affect how the body makes certain types of fats (lipids). These lipids — including phospholipids, sphingolipids, and fatty acids — are essential building blocks of nerve cell membranes, particularly the myelin sheath that insulates peripheral nerves (the nerves outside the brain and spinal cord). When the body cannot properly produce these lipids, the peripheral nerves become damaged or do not function correctly, leading to