Overview
Disorder of asparagine metabolism is an extremely rare inherited metabolic condition that affects how the body makes or uses the amino acid asparagine. Asparagine is one of the building blocks of proteins and plays an important role in brain development and function. When the body cannot properly produce or handle asparagine, it can lead to serious problems, especially in the brain and nervous system. This condition typically appears early in life, often in infancy or early childhood. Affected children may experience developmental delays, intellectual disability, seizures, and a small head size (microcephaly). Some children may also have difficulty with movement and coordination. Brain imaging often shows structural abnormalities or reduced brain volume. The most well-known form of this disorder is caused by mutations in the ASNS gene, which provides instructions for making the enzyme asparagine synthetase. Without enough of this enzyme, the body cannot produce sufficient asparagine, particularly in the brain. Treatment is currently limited and mainly supportive, focusing on managing seizures, supporting development through therapies, and addressing nutritional needs. There is no cure at this time, and research into effective treatments is ongoing. Because this condition is so rare, much of what is known comes from a small number of reported cases worldwide.
Key symptoms:
Severe intellectual disabilitySeizures that may be hard to controlSmall head size (microcephaly)Delayed development or failure to reach milestonesDifficulty with movement and coordinationIncreased muscle stiffness or spasticityFeeding difficultiesReduced brain volume seen on imagingLow muscle tone in early infancyLimited or absent speechIrritability or excessive cryingPoor growth
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Disorder of asparagine metabolism.
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Specialists
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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 Disorder of asparagine metabolism.
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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 genetic mutation does my child have, and does it tell us anything about how severe the condition might be?,What seizure medications are best suited for my child, and what side effects should I watch for?,Would asparagine supplementation in the diet be worth trying?,Are there any clinical trials or research studies my child could participate in?,What therapies should we start right away to support my child's development?,How should we handle a prolonged seizure at home, and when should we call emergency services?,Are there genetic implications for future pregnancies, and should our family members be tested?
Common questions about Disorder of asparagine metabolism
What is Disorder of asparagine metabolism?
Disorder of asparagine metabolism is an extremely rare inherited metabolic condition that affects how the body makes or uses the amino acid asparagine. Asparagine is one of the building blocks of proteins and plays an important role in brain development and function. When the body cannot properly produce or handle asparagine, it can lead to serious problems, especially in the brain and nervous system. This condition typically appears early in life, often in infancy or early childhood. Affected children may experience developmental delays, intellectual disability, seizures, and a small head si
How is Disorder of asparagine metabolism inherited?
Disorder of asparagine metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of asparagine metabolism typically begin?
Typical onset of Disorder of asparagine metabolism is neonatal. Age of onset can vary across affected individuals.