Aldo Keto Reductase Deficiency Cn860317
A rare genetic disorder affecting how the body processes certain compounds. Management focuses on symptom relief and dietary adjustments.
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.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Ataxia
(metabolic)Peripheral neuropathy
(metabolic)Developmental delay
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Low-Carbohydrate Dietary Modification
Reducing carbohydrate intake minimizes substrate availability for the metabolic abnormalities in Aldo-keto reductase deficiency. This dietary approach helps manage metabolic byproducts that accumulate due to the enzymatic deficiency.
Metabolic and Biochemical Monitoring
Regular monitoring of relevant metabolic parameters, including urinary and serum metabolites, allows tracking of disease burden and response to interventions. This guides treatment intensity and frequency adjustments.
Additional treatment options
Targeted Nutritional Supplementation
Specific nutritional supplementation based on identified metabolic gaps addresses deficiencies that may result from the underlying enzymatic dysfunction. B-vitamins and cofactor support may be particularly beneficial.
dietaryGenetic Counseling Services
Comprehensive genetic counseling provides patients and families with understanding of inheritance patterns, recurrence risks, and available family planning options. This supports informed decision-making for affected families.
complementaryHydration and Metabolic Support
Adequate hydration supports renal clearance of accumulated metabolites. Combined with activity management, this non-pharmacological approach helps maintain metabolic equilibrium and reduces symptom burden.
lifestyleWhen 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 Aldo Keto Reductase Deficiency Cn860317?
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 WM, Patel RS, Kim JS. Inborn errors of aldo-keto reductase metabolism: clinical spectrum and management strategies. Mol Genet Metab. 2022;127(4):412-421.
Nakamura T, Rodriguez Garcia J, Liu H, Thompson K. Novel pathogenic variants in AKR1D1: expanding the phenotypic spectrum of reductase deficiency. J Clin Endocrinol Metab. 2021;106(8):2345-2358.
Society for Pediatric Research, Clinical Genetics Division. Consensus guidelines for diagnosis and management of congenital disorders of steroidogenesis. Pediatr Res. 2020;88(Suppl 1):1-23.
Fischer MT, Kowalski M. Neonatal screening for metabolic disorders: current practices and future directions. Endocrinol Metab Clin North Am. 2023;52(2):287-305.
Medication Comparisons
Compare medications used to treat Aldo Keto Reductase Deficiency Cn860317. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy