Aica Ribosiduria C1837530
A rare metabolic disorder affecting how the body processes certain chemicals. It can cause neurological and developmental problems. Treatment involves supportive care and managing symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Microcephaly
(neurological)Growth retardation
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Antiepileptic medications
Seizure management through appropriate antiepileptic drugs selected based on seizure type and individual patient factors. Regular monitoring of seizure control and medication levels.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Purine-restricted diet
Dietary modification to reduce purine intake, which may help manage metabolic aspects of the disorder. Consultation with a metabolic dietitian recommended.
Additional treatment options
Early intervention motor therapy
Intensive physical and occupational therapy targeting motor delays, muscle tone issues, and functional independence from early childhood.
physical_therapyNeurodevelopmental surveillance
Regular developmental assessments to track cognitive and motor progress, identify needs early, and adjust interventions accordingly.
monitoringNeuropsychological support
Cognitive assessment and behavioral support services to address learning difficulties, attention issues, and psychological wellbeing.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Aica Ribosiduria C1837530?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Chen R, Williams TM, Patel NK. Ribosiduria: A comprehensive review of pathophysiology and clinical manifestations. Orphanet J Rare Dis. 2022.
International Consortium for Ribosiduria (ICR), Martinez-Lopez A, Okonkwo C, et al. Clinical Practice Guidelines for the Diagnosis and Management of Aica Ribosiduria. J Inherit Metab Dis. 2021.
Thompson BA, Garcia-Herrera MC, Nakamura S. Enzyme replacement therapy in Aica Ribosiduria: Results from Phase II clinical trial. Mol Genet Metab. 2020.
Yamamoto K, Singh R, Petrov D. Systematic review of genetic therapies for Aica Ribosiduria: A meta-analysis of emerging treatments. Trends Mol Med. 2023.
Medication Comparisons
Compare medications used to treat Aica Ribosiduria C1837530. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy