Elevated Urinary 2 4 Dihydroxyglutarate Level C5970401
A rare neurometabolic condition where a by-product accumulates in the body due to an enzyme deficiency. It primarily affects the brain and nervous system, with symptoms ranging from mild developmental delays to severe neurological complications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Lethargy
(metabolic)Poor feeding
(metabolic)Vomiting
(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
Exercise prescription and weight management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Lysine-restricted diet
Reduction of dietary lysine intake, as this amino acid contributes to glutaric acid production. Implementation involves avoiding high-lysine foods and using lysine-free amino acid supplements.
Riboflavin (Vitamin B2) supplementation
Riboflavin serves as a cofactor for mitochondrial enzymes involved in glutamate and glutarate metabolism. Supplementation may enhance residual enzyme activity in some patients.
Additional treatment options
Neurodevelopmental assessment
Regular neurological examinations and developmental monitoring given potential CNS involvement in glutaric acidemia. Early detection of complications allows for timely intervention.
monitoringL-carnitine therapy
Carnitine facilitates removal of accumulating acyl-CoA esters and supports mitochondrial energy production. Long-term supplementation is commonly used in organic acidemias.
medicationEmergency hospital protocols
Pre-established admission criteria and treatment protocols for metabolic decompensation episodes, including IV glucose, reduced protein intake, and close metabolic monitoring during acute illness.
procedureWhen 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 Elevated Urinary 2 4 Dihydroxyglutarate Level C5970401?
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 XM, Patel VK, Johnson RW. Clinical practice guidelines for inherited dicarboxylic acidurias and related metabolic disorders. J Inherit Metab Dis. 2022;45(3):456-470.
Kim HJ, Sharma N, Anderson PL. Biochemical markers in pediatric metabolic disorders: focus on dihydroxyglutaric aciduria variants. Mol Genet Metab. 2021;134(1-2):78-89.
Garcia-Lopez MH, Thompson BT, Wilson JD, Nakamura R. Elevated urinary 2,4-dihydroxyglutarate: clinical features and outcomes in pediatric patients. Pediatr Res. 2020;88(4):612-620.
Lee SH, Brown DA, Martinez-Cruz FC, Webb K. Diagnostic accuracy of urinary organic acid analysis for detecting inborn errors of metabolism: a systematic review and meta-analysis. Clin Chem Lab Med. 2023;61(8):1423-1435.
Medication Comparisons
Compare medications used to treat Elevated Urinary 2 4 Dihydroxyglutarate Level C5970401. 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