Overview
D,L-2-hydroxyglutaric aciduria (also called combined D-2- and L-2-hydroxyglutaric aciduria) is an extremely rare inherited metabolic disorder. In this condition, the body accumulates abnormally high levels of both D-2-hydroxyglutaric acid and L-2-hydroxyglutaric acid in the urine, blood, and spinal fluid. This happens because of a defect in a specific enzyme involved in processing these organic acids. The disease primarily affects the brain and nervous system, leading to severe developmental problems that usually begin in infancy or early childhood. Children with this condition typically experience severe developmental delay, seizures (epilepsy), low muscle tone (hypotonia) that may progress to increased muscle stiffness (spasticity), and intellectual disability. Brain imaging often shows abnormalities in the white matter of the brain, as well as changes in deeper brain structures. Some children may also have breathing difficulties and feeding problems. Currently, there is no cure for D,L-2-hydroxyglutaric aciduria. Treatment is supportive and focuses on managing symptoms such as seizures with anti-epileptic medications, physical therapy for movement difficulties, and nutritional support. Because this condition is so rare, research is limited, and families often benefit from connecting with metabolic disease specialists and rare disease support networks. Early diagnosis through metabolic testing and genetic analysis is important for appropriate management and family planning.
Also known as:
Key symptoms:
Severe developmental delayIntellectual disabilitySeizures or epilepsyLow muscle tone (floppiness) in infancyIncreased muscle stiffness over timeDifficulty feedingBreathing problemsAbnormal brain white matter on MRIPoor head controlDelayed or absent speechDelayed or absent ability to walkInvoluntary muscle movementsPoor growth or failure to thriveVision problems
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 D,L-2-hydroxyglutaric aciduria.
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Specialists
View all specialists →No specialists are currently listed for D,L-2-hydroxyglutaric aciduria.
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 D,L-2-hydroxyglutaric aciduria.
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 is the expected course of this disease for my child specifically?,What seizure medications are best suited, and what side effects should I watch for?,Are there any dietary changes or supplements that might help?,How often should brain MRI and metabolic testing be repeated?,Are there any clinical trials or research studies my child could participate in?,What therapies (physical, occupational, speech) do you recommend and how often?,Should other family members be tested as carriers of this condition?
Common questions about D,L-2-hydroxyglutaric aciduria
What is D,L-2-hydroxyglutaric aciduria?
D,L-2-hydroxyglutaric aciduria (also called combined D-2- and L-2-hydroxyglutaric aciduria) is an extremely rare inherited metabolic disorder. In this condition, the body accumulates abnormally high levels of both D-2-hydroxyglutaric acid and L-2-hydroxyglutaric acid in the urine, blood, and spinal fluid. This happens because of a defect in a specific enzyme involved in processing these organic acids. The disease primarily affects the brain and nervous system, leading to severe developmental problems that usually begin in infancy or early childhood. Children with this condition typically expe
How is D,L-2-hydroxyglutaric aciduria inherited?
D,L-2-hydroxyglutaric aciduria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does D,L-2-hydroxyglutaric aciduria typically begin?
Typical onset of D,L-2-hydroxyglutaric aciduria is infantile. Age of onset can vary across affected individuals.