Overview
Fatty acyl-CoA reductase 1 deficiency, also known as FAR1 deficiency, is an extremely rare inherited metabolic disorder caused by mutations in the FAR1 gene. This gene provides instructions for making an enzyme called fatty acyl-CoA reductase 1, which plays a critical role in producing a type of fat called plasmalogens. Plasmalogens are essential components of cell membranes, particularly in the brain, heart, and lungs, and they help protect cells from damage caused by oxidative stress. When the FAR1 enzyme does not work properly, plasmalogen levels in the body become severely reduced. This leads to problems that can affect multiple organ systems, especially the brain and nervous system. Children with this condition typically show developmental delays, intellectual disability, seizures, and problems with movement. Some patients may also have cataracts or other eye abnormalities, as well as growth problems. The severity of symptoms can vary between individuals, but the condition generally presents in infancy or early childhood. There is currently no cure for FAR1 deficiency. Treatment is supportive and focuses on managing individual symptoms such as seizures, movement difficulties, and developmental challenges. A team of specialists is usually needed to provide comprehensive care. Research into plasmalogen replacement and other potential therapies is ongoing but still in early stages.
Key symptoms:
Developmental delayIntellectual disabilitySeizuresDifficulty with movement and coordinationMuscle stiffness or spasticityCataracts or other eye problemsPoor growth or short statureDifficulty speaking or absent speechAbnormal brain development seen on MRIFeeding difficulties in infancyLow muscle tone in early lifeHearing problems
Clinical phenotype terms (22)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Fatty acyl-CoA reductase 1 deficiency.
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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 Fatty acyl-CoA reductase 1 deficiency.
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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 is the expected course of this condition for my child based on their specific genetic findings?,What therapies and interventions should we start right away to support development?,What seizure medications are recommended, and what side effects should we watch for?,Should my child have regular eye exams, and how often?,Are there any clinical trials or experimental treatments available for FAR1 deficiency?,What genetic testing should other family members consider, especially if we plan to have more children?,What support services and early intervention programs are available in our area?
Common questions about Fatty acyl-CoA reductase 1 deficiency
What is Fatty acyl-CoA reductase 1 deficiency?
Fatty acyl-CoA reductase 1 deficiency, also known as FAR1 deficiency, is an extremely rare inherited metabolic disorder caused by mutations in the FAR1 gene. This gene provides instructions for making an enzyme called fatty acyl-CoA reductase 1, which plays a critical role in producing a type of fat called plasmalogens. Plasmalogens are essential components of cell membranes, particularly in the brain, heart, and lungs, and they help protect cells from damage caused by oxidative stress. When the FAR1 enzyme does not work properly, plasmalogen levels in the body become severely reduced. This l
How is Fatty acyl-CoA reductase 1 deficiency inherited?
Fatty acyl-CoA reductase 1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Fatty acyl-CoA reductase 1 deficiency typically begin?
Typical onset of Fatty acyl-CoA reductase 1 deficiency is infantile. Age of onset can vary across affected individuals.
Which specialists treat Fatty acyl-CoA reductase 1 deficiency?
1 specialists and care centers treating Fatty acyl-CoA reductase 1 deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.