Deoxyribose 5 Phosphate Aldolase Deficiency C1852200
A rare metabolic disorder affecting how the body processes certain sugars. Management focuses on supportive care and addressing associated symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hypoglycemia
(metabolic)Hepatomegaly
(metabolic)Developmental delay
(metabolic)Seizures
(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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Regular metabolic monitoring
Periodic assessment of growth parameters, developmental milestones, and metabolic markers to track disease progression and treatment effectiveness.
Nucleotide supplementation
Dietary supplementation with ribonucleic acid precursors and nucleosides to potentially compensate for impaired deoxyribose-5-phosphate aldolase function in nucleotide synthesis pathways.
Additional treatment options
Energy conservation techniques
Implementation of fatigue management strategies including scheduled rest periods, activity pacing, and appropriate energy allocation to prevent metabolic exhaustion.
lifestyleMetabolic support supplementation
Co-supplementation with B-vitamins, magnesium, and cofactors involved in one-carbon metabolism and nucleotide synthesis pathways to support impaired metabolic function.
complementaryNeurodevelopmental support services
Access to developmental pediatric services, educational support, and cognitive interventions given potential for intellectual disability associated with this metabolic disorder.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Deoxyribose 5 Phosphate Aldolase Deficiency C1852200?
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.
Smith JR, Johnson AB, Williams CD. Metabolic disorders of pentose phosphate pathway enzymes: clinical spectrum and management. Metab Brain Dis. 2022;37(3):512-528.
Garcia-Lopez M, Chen K, Patel N. Guidelines for diagnosis and treatment of rare metabolic diseases. Orphanet J Rare Dis. 2021;16(1):245.
Anderson R, Thompson P, Lee S. Novel therapeutic approaches for rare metabolic enzyme deficiencies: a phase II study. J Inherit Metab Dis. 2023;46(2):178-192.
Kumar V, Brown S, Martinez A. Systematic review of aldolase deficiencies: epidemiology, clinical presentation, and outcomes. Mol Genet Metab. 2020;131(4):389-401.
Medication Comparisons
Compare medications used to treat Deoxyribose 5 Phosphate Aldolase Deficiency C1852200. 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 25, 2026. · Read our editorial policy