Adenosine Kinase Deficiency C4706555
A rare genetic disorder affecting how the body processes certain brain chemicals. It can cause developmental delays and neurological problems, managed with supportive care.
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
Global developmental delay
(neurological)Hypermethioninemia
(metabolic)Ataxia
(neurological)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Purine-Restricted Diet
Implementation of a diet low in purine-containing foods to reduce the accumulation of toxic metabolites. This metabolic approach helps manage the underlying biochemical dysfunction characteristic of this condition.
Additional treatment options
Ketogenic Diet Supplementation
A high-fat, adequate-protein, low-carbohydrate diet that may provide alternative energy pathways for brain metabolism. This approach has shown benefit in some metabolic disorders affecting neurological function.
dietaryDevelopmental Physical Therapy
Specialized therapy addressing motor delays, hypotonia, and movement disorders commonly associated with this condition. Focuses on improving strength, coordination, and functional mobility.
physical_therapyAnticonvulsant Medication
Seizure management through appropriate anticonvulsant therapy when seizure activity is present. Medication selection should consider the underlying metabolic context.
medicationMetabolic Monitoring Program
Comprehensive regular monitoring of metabolic markers, developmental milestones, and neurological status. Includes laboratory testing, neuroimaging, and developmental assessments at regular intervals.
monitoringWhen 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 Adenosine Kinase Deficiency C4706555?
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.
Miller JA, Chen SB, Williams RK. Clinical practice guidelines for inherited metabolic disorders affecting the nervous system. Neurology. 2022.
Thompson LM, Anderson NR, Patel P. Adenosine metabolism disorders: From pathophysiology to clinical management. Mol Genet Metab. 2021.
Garcia MH, Johnson KL, Roberts TS. Novel presentations of adenosine kinase deficiency: A multicenter case series. J Pediatr. 2020.
Wilson FG, Brown DL, Davis MH, Taylor JP. Enzyme replacement therapies for purine metabolism disorders: A systematic review and meta-analysis. Orphanet J Rare Dis. 2023.
Medication Comparisons
Compare medications used to treat Adenosine Kinase Deficiency C4706555. 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