Living with Sialic acid storage disease, severe infantile type
A genetic condition in which a sugar-like substance builds up in cells, affecting the brain, face, liver and heart from before or soon after birth.
Understanding Sialic acid storage disease, severe infantile type
It is part of a spectrum of nervous system conditions. The severe form causes major developmental delay, coarse facial features, an enlarged liver and spleen, and an enlarged heart. Signs begin during pregnancy or in the newborn period. A milder form, once called Salla disease, starts later and progresses slowly.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, the severe form includes:
- Severe developmental delay
- Coarse facial features
- Enlarged liver and spleen
- Enlarged heart
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 bone and joint specialists, brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SLC17A5 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 lists changes in the SLC17A5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: free sialic acid storage disease, infantile form; infantile free sialic acid storage disease; infantile sialic acid storage disease; infantile sialic acid storage disorder; issd; n-acetylneuraminic acid storage disease
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 Sialic acid storage disease, severe infantile type.
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