Overview
Disorder of phospholipids, sphingolipids, and fatty acids biosynthesis with central nervous system predominant involvement is a group of very rare inherited metabolic conditions. In these disorders, the body has trouble making certain types of fats (called lipids) that are essential for the brain and nervous system to work properly. Phospholipids, sphingolipids, and fatty acids are building blocks of cell membranes, especially in nerve cells, and they play a critical role in how nerve signals are sent and received. Because the brain and spinal cord are most affected, children with these conditions typically show neurological problems such as developmental delay, intellectual disability, movement difficulties, seizures, and problems with muscle tone. Symptoms often begin in infancy or early childhood and may progressively worsen over time. The severity can vary depending on the specific genetic cause and which part of the lipid-making process is disrupted. There is currently no cure for most conditions in this group. Treatment is mainly supportive and focuses on managing symptoms such as seizures, feeding difficulties, and movement problems. A team of specialists including neurologists, metabolic geneticists, and rehabilitation therapists typically provides care. Research is ongoing to better understand these conditions and develop targeted therapies.
Key symptoms:
Developmental delayIntellectual disabilitySeizures or epilepsyAbnormal muscle tone (too stiff or too floppy)Difficulty with coordination and balanceProblems with walking or movementSpeech and language delaysFeeding difficultiesVision problemsHearing lossRegression of previously learned skillsAbnormal brain findings on MRIBehavioral changesDifficulty swallowing
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
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 central nervous system 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 central nervous system 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 central nervous system 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
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.What specific genetic cause has been identified, and what does it mean for my child's condition?,What is the expected course of this disease, and how might symptoms change over time?,What therapies and interventions are recommended right now to support my child's development?,Are there any clinical trials or experimental treatments available for this condition?,What emergency signs should I watch for, and what should I do if they occur?,How often should my child have follow-up appointments and with which specialists?,Are other family members at risk, and should they be tested?
Common questions about Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
What is Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement?
Disorder of phospholipids, sphingolipids, and fatty acids biosynthesis with central nervous system predominant involvement is a group of very rare inherited metabolic conditions. In these disorders, the body has trouble making certain types of fats (called lipids) that are essential for the brain and nervous system to work properly. Phospholipids, sphingolipids, and fatty acids are building blocks of cell membranes, especially in nerve cells, and they play a critical role in how nerve signals are sent and received. Because the brain and spinal cord are most affected, children with these condi
How is Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement inherited?
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.