Overview
Disorder of glutamine metabolism is an extremely rare group of metabolic conditions that affect how the body makes, breaks down, or uses glutamine. Glutamine is one of the most abundant amino acids in the body and plays a vital role in many processes, including brain function, immune system health, gut lining maintenance, and energy production. When the body cannot properly handle glutamine, it can lead to a buildup or shortage of this amino acid and related substances, which may harm the brain and other organs. Symptoms can vary depending on the specific type of glutamine metabolism disorder but may include seizures, developmental delay, intellectual disability, and problems with multiple organ systems. Some patients may present in the newborn period with severe brain disease, while others may have milder symptoms that appear later. Because these conditions are so rare, the full range of symptoms and outcomes is still being studied. Treatment is largely supportive and depends on the specific defect involved. In some cases, dietary management and supplementation may help. Seizure medications may be needed for those with epilepsy. Early diagnosis through metabolic testing and genetic analysis is important to guide treatment and improve outcomes. Research into these conditions is ongoing, and management is best handled by a team of specialists experienced in inborn errors of metabolism.
Key symptoms:
Seizures, sometimes starting in the newborn periodDevelopmental delayIntellectual disabilityLow muscle tone (floppy baby)Feeding difficultiesFailure to thrive or poor growthAbnormal brain developmentBreathing problems in newbornsSkin abnormalities in some formsChronic diarrhea or gut problemsImmune system weakness or frequent infectionsIrritability or excessive cryingMovement problems or poor coordination
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)
FDA & Trial Timeline
2 eventsAssistance Publique - Hôpitaux de Paris
University Hospital, Rouen — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of glutamine metabolism.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Disorder of glutamine metabolism at this time.
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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 glutamine metabolism.
Community
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Start the conversation →Latest news about Disorder of glutamine metabolism
Disease timeline:
New recruiting trial: Effects of Oral Glutamine Supplementation on Insulin Resistance and Functional Intestinal Disorders in Obese Patients.
A new clinical trial is recruiting patients for Disorder of glutamine metabolism
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 type of glutamine metabolism disorder does my child have?,What genetic test confirmed the diagnosis, and should other family members be tested?,What symptoms should I watch for that would require emergency care?,Are there any dietary changes or supplements that could help?,What therapies (physical, occupational, speech) are recommended?,Are there any clinical trials or research studies we could participate in?,What is the expected long-term outlook for my child's specific condition?
Common questions about Disorder of glutamine metabolism
What is Disorder of glutamine metabolism?
Disorder of glutamine metabolism is an extremely rare group of metabolic conditions that affect how the body makes, breaks down, or uses glutamine. Glutamine is one of the most abundant amino acids in the body and plays a vital role in many processes, including brain function, immune system health, gut lining maintenance, and energy production. When the body cannot properly handle glutamine, it can lead to a buildup or shortage of this amino acid and related substances, which may harm the brain and other organs. Symptoms can vary depending on the specific type of glutamine metabolism disorder
How is Disorder of glutamine metabolism inherited?
Disorder of glutamine metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of glutamine metabolism typically begin?
Typical onset of Disorder of glutamine metabolism is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Disorder of glutamine metabolism?
13 specialists and care centers treating Disorder of glutamine metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.