Living with L-2-hydroxyglutaric aciduria
An inherited metabolic condition with progressive brain changes, starting in infancy or early childhood with delay, seizures, and speech trouble.
Understanding L-2-hydroxyglutaric aciduria
Symptoms usually begin in infancy or early childhood. They may include developmental delay, seizures, speech difficulties, a large head, and differences in the cerebellum, the part of the brain that helps with balance and muscle coordination.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Seizures
- Speech difficulties
- Large head (macrocephaly)
- Low muscle tone
- Cerebellum that is small or different
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 L2HGDH 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 Organic Acidemia Association and other patient organizations
- 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
Changes in the L2HGDH gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: l-2-hga; l-2-hydroxy-glutaric aciduria; l-2-hydroxyglutaric acidemia; l-2(oh) glutaric aciduria; l2hga
Patient organizations
- Organic Acidemia AssociationL-2-hydroxyglutaric aciduria · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with L-2-hydroxyglutaric aciduria.
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