Living with Aspartylglucosaminuria
An inherited condition that mainly affects thinking and movement and gets worse over time, starting around ages 2 to 3.
Understanding Aspartylglucosaminuria
Babies look healthy at birth and develop normally in early childhood. Around age 2 or 3, children begin to have delayed speech, mild intellectual disability, and trouble with coordination. Respiratory infections, hernias, and a large head may follow. Intellectual disability and movement problems worsen in the teen years. Adults often have few words and may have seizures or psychological conditions.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Intellectual disability
- Trouble coordinating movements
- Coarse facial features, large tongue, and full lips
- Gum swelling and dental cavities
- Thicker skull bone
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 AGA 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
- 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: 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
GARD says changes in the AGA gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aga deficiency; agu; aspartylglucos-amidase (aga) deficiency; aspartylglucos-aminuria; aspartylglucosaminidase deficiency; aspartylglycosaminuria
Patient organizations
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Aspartylglucosaminuria · United States
- International Society for Mannosidosis and Related DiseasesAspartylglucosaminuria · Rare Trait Hope Fund
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Aspartylglucosaminuria.
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