Living with D,L-2-hydroxyglutaric aciduria
A rare metabolic condition that starts in newborns with seizures, breathing pauses, low muscle tone, and severe delays in development.
Understanding D,L-2-hydroxyglutaric aciduria
Babies with this condition can have severe seizures, pauses in breathing (apnea), and trouble breathing. They often have very low muscle tone, feeding problems, poor weight gain, and severe delays in development. Brain scans may show differences in the brain's structure. Tests show raised levels of certain substances in the blood, spinal fluid, and urine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Low muscle tone (hypotonia)
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC25A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SLC25A1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: combined d-2- and l-2-hydroxyglutaric aciduria; combined d-2-hydroxyglutaric acidemia and l-2-hydroxyglutaric acidemia; combined d-2-hydroxyglutaric aciduria and l-2-hydroxyglutaric aciduria; d,l-2-hga; d,l-2-hydroxyglutaric acidemia; d2l2ad
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with D,L-2-hydroxyglutaric aciduria.
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