Living with 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
An inherited condition, also called MEGDEL syndrome, that affects hearing, the brain, muscle tone, and development.
Understanding 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
The name stands for 3-methylglutaconic aciduria, deafness, encephalopathy (brain dysfunction), and Leigh-like disease. In infancy, hearing loss from the inner ear develops and slowly worsens. Babies have feeding difficulty, slow weight gain, and low muscle tone. Later they develop involuntary muscle tensing (dystonia) and stiffness (spasticity). People have intellectual disability and never learn to speak. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from the inner ear (sensorineural)
- Involuntary muscle tensing (dystonia)
- Muscle stiffness (spasticity)
- Global developmental delay
- Intellectual disability
- Loss of skills already learned
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in SERAC1 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
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation 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 SERAC1 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance, so a child inherits a changed copy of the gene from each parent.
Also known as: 3-methylglutaconic aciduria caused by mutation in serac1; 3-methylglutaconic aciduria type 6; 3-methylglutaconic aciduria type iv with sensorineural deafness, encephalopathy and leigh-like syndrome; 3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, leigh-like syndrome; 3-methylglutaconic aciduria with hearing loss-encephalopathy-leigh-like syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome.
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