Living with Alpha-N-acetylgalactosaminidase deficiency type 3
A rare form of NAGA deficiency that can affect development, the brain, and mental health.
Understanding Alpha-N-acetylgalactosaminidase deficiency type 3
It can cause problems with development, the brain, and mental health. GARD says these symptoms usually appear in a person's middle years. GARD lists the onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Intellectual disability
- Seizures
- Autism
- Cloudy lens of the eye (cataract)
- Enlarged liver
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in NAGA 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
The International Advocates for Glycoprotein Storage Diseases (ISMRD) and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: The International Advocates for Glycoprotein Storage Diseases (ISMRD), 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 The International Advocates for Glycoprotein Storage Diseases (ISMRD) 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 NAGA gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alpha-n-acetylgalactosaminidase deficiency, type iii; naga (alpha-n-acetylgalactosaminidase) deficiency type 3; naga deficiency type 3; schindler disease type 3; schindler disease, type 3; schindler disease, type iii
Patient organizations
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Alpha-N-acetylgalactosaminidase deficiency type 3 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Alpha-N-acetylgalactosaminidase deficiency type 3.
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