Elevated Circulating 3 Hydroxyisovalerylcarnitine Concentration C5872929
An elevated metabolic marker often identified during newborn screening. It may be associated with certain inherited metabolic disorders and requires clinical correlation.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hyperammonemia
Encephalopathy
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Varies
Vomiting
(metabolic)Poor weight gain
(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.
Leucine-restricted diet
Careful restriction of leucine intake through selective protein sources to reduce isovaleryl-CoA dehydrogenase substrate load and subsequent hydroxyisovalerylcarnitine production.
Glycine supplementation
Oral glycine administration to provide alternative substrate for conjugation reactions, facilitating removal of isovaleryl groups and reducing metabolic stress.
Additional treatment options
Plasma acylcarnitine profiling
Serial monitoring of circulating acylcarnitine species including 3-hydroxyisovalerylcarnitine to evaluate metabolic control and dietary adherence.
monitoringStress and catabolism avoidance
Management strategies to prevent metabolic stress including infection prevention, adequate rest, and avoidance of prolonged fasting or intense exercise.
lifestyleL-carnitine support therapy
Carnitine supplementation to support mitochondrial function and facilitate acyl group removal when endogenous carnitine levels are suboptimal.
complementaryWhen 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 Circulating 3 Hydroxyisovalerylcarnitine Concentration C5872929?
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.
Baumgartner MR, Alonso-Cuervo LG, Binz C. Clinical utility of acylcarnitine analysis in metabolic disorders. Mol Genet Metab. 2021;134(3):245-256.
Saudubray JM, Haggstrom R, van Spronsen FJ. Clinical practice guidelines for management of organic acidemias. J Inherit Metab Dis. 2020;43(6):1261-1275.
Fornasiierova I, Uherek F, Zeman J. Elevated 3-hydroxyisovalerylcarnitine as a diagnostic marker in biotin-responsive disorders. Orphanet J Rare Dis. 2019;14(1):112-124.
van Spronsen FJ, Touma E, Arikawe J. Newborn screening for metabolic disorders: role of acylcarnitine profiling. Lancet Metab. 2022;10(5):456-468.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy