Living with AICA-ribosiduria
A rare inherited metabolic condition with severe developmental delay, vision loss, slowed growth, scoliosis, and often early seizures.
Understanding AICA-ribosiduria
It involves severe-to-profound delays in brain development, severe vision problems, slowed growth before and after birth, and severe scoliosis (curving of the spine). Seizures often start early in life. It is present during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Blindness from birth
- Seizures
- Scoliosis
- Slowed growth
- Short and broad skull (brachycephaly)
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 and genetic specialists.
- 3Consider genetic testing
Changes in ATIC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 ATIC gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 5-amino-4-imidazole carboxamide ribosiduria; aica (5-amino-4-imidazole carboxamide) ribosiduria; aica-ribosiduria due to atic deficiency; aicar transformylase/imp cyclohydrolase deficiency; atic (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency; atic deficiency
Patient organizations
Rare-disease groups that can help
- 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 AICA-ribosiduria.
Explore research for AICA-ribosiduria
Explore actively recruiting AICA-ribosiduria studies with HealthSpark.
Find actively recruiting studies for AICA-ribosiduria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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