Living with GM3 synthase deficiency
A rare inherited condition with seizures that start in the first year of life and major problems with brain development.
Understanding GM3 synthase deficiency
In the first weeks after birth, infants become irritable and have feeding difficulties and vomiting, so they don't grow and gain weight as expected. Seizures begin within the first year and get worse over time, and they tend to be hard to control with seizure medicines. The condition greatly affects brain development. Some children also have skin color changes, such as dark freckle-like spots and light patches.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures, including tonic-clonic (grand mal) seizures
- Irritability and feeding difficulties in infancy
- Slow weight gain
- Global developmental delay and loss of skills
- Low muscle tone (hypotonia)
- Skin color changes
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, seizure and epilepsy specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ST3GAL5 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); Skin, hair, and nail specialists (dermatologists)
- 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 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 ST3GAL5 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: amish infantile epilepsy syndrome; disorder of lactosylceramide alpha-2,3-sialyltransferase activity; epilepsy syndrome, infantile-onset symptomatic; ganglioside gm3 synthase deficiency; infantile-onset symptomatic epilepsy syndrome; infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with GM3 synthase deficiency.
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