Living with Alpha-N-acetylgalactosaminidase deficiency type 2
A very rare, mild adult form of NAGA deficiency with small red-purple skin spots and mild nerve problems.
Understanding Alpha-N-acetylgalactosaminidase deficiency type 2
Its features are angiokeratoma corporis diffusum (small dark red skin spots over the body) and mild sensory neuropathy (nerve damage affecting feeling). It starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small dark red skin spots (angiokeratoma corporis diffusum)
- Coarse facial features
- Hearing loss
- Dizzy spells (vertigo)
- Enlarged heart (cardiomegaly)
- Firm lumps under the skin
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: adult-onset alpha-n-acetylgalactosaminidase deficiency; alpha-n-acetylgalactosaminidase deficiency, type ii; kanzaki disease; naga (alpha-n-acetylgalactosaminidase) deficiency type 2; naga deficiency type 2; naga deficiency, type ii
Patient organizations
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Alpha-N-acetylgalactosaminidase deficiency type 2 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Alpha-N-acetylgalactosaminidase deficiency type 2.
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