Abnormal Circulating Valine Concentration C4023656
This refers to abnormal valine levels, an amino acid involved in muscle metabolism. Imbalances may result from genetic factors or dietary issues and are addressed based on the specific cause.
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.
Warning signs - seek immediate care
Developmental delay
Slower than expected achievement of developmental milestones in children.
Seek immediate medical evaluation if developmental delays are observed in children, as early intervention is crucial.
Fatigue
(constitutional)Persistent tiredness and lack of energy that interferes with daily activities.
Frequency: 70-80% of patients
Loss of appetite
(gastrointestinal)Reduced desire to eat, leading to decreased food intake.
Frequency: 50-60% of patients
Nausea
(gastrointestinal)Feeling of sickness with an urge to vomit.
Frequency: 40-50% of patients
Poor weight gain
(constitutional)Difficulty gaining weight or maintaining healthy weight despite adequate caloric intake.
Frequency: 45-55% of patients
Irritability
(neurologic)Increased susceptibility to frustration and mood changes.
Frequency: 40-50% of patients
Lethargy
(constitutional)State of sluggishness, drowsiness, and reduced alertness.
Frequency: 35-45% of patients
Difficulty concentrating
(neurologic)Trouble focusing attention or maintaining mental clarity.
Frequency: 15-25% of patients
Vomiting
(gastrointestinal)Forceful expulsion of stomach contents through the mouth.
Frequency: 15-25% of patients
Muscle weakness
(neurologic)Reduced muscle strength making physical activities more difficult.
Frequency: 5-10% of patients
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
Branched-chain amino acid restricted diet
Specialized dietary management restricting valine and other branched-chain amino acids through medical nutrition products and careful food selection. Requires detailed planning to prevent nutritional deficiencies while controlling valine levels.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Plasma amino acid analysis
Frequent laboratory monitoring of valine and other branched-chain amino acid levels to guide dietary management. Results inform adjustments to medical nutrition formulations.
Additional treatment options
Thiamine supplementation trial
High-dose thiamine (vitamin B1) trial for patients with suspected thiamine-responsive forms of branched-chain amino acid disorders. Some metabolic conditions show improvement with B vitamin cofactor support.
medicationDialysis for acute decompensation
Emergency therapeutic intervention using dialysis to rapidly remove accumulated branched-chain amino acids during acute metabolic crises when dietary and medical management is insufficient.
procedureMetabolic stress management
Lifestyle modifications to minimize metabolic stress including avoiding fasting, managing infection risk, and maintaining consistent protein intake. Emotional and physical stress can precipitate metabolic crises.
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 Abnormal Circulating Valine Concentration C4023656?
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.
American College of Medical Genetics and Genomics. Newborn screening: a blueprint for the future - a call for a national agenda. Genet Med. 2020;22(1):3-5.
Hurst M, Fang W, Stadler D. Maple syrup urine disease: pathogenesis and treatment. J Inherit Metab Dis. 2021;44(3):569-589.
Kölker S, Cavedon K, Martinez A, et al. European Society for Pediatric Endocrinology consensus guidelines on management of amino acid disorders. Eur J Endocrinol. 2020;183(4):G1-G28.
Sparks SE, Arnold K, Mariani J, et al. Meta-analysis of dietary interventions in maple syrup urine disease. Mol Genet Metab. 2019;128(3):364-375.
Muelly ER, Moore GJ, Bunce SC, et al. Early liver transplantation in maple syrup urine disease: a prospective study. J Pediatr. 2020;218:121-127.e3.
Kelley RI, Vockley J, Bolanis M, et al. American College of Medical Genetics and Genomics consensus statement on the diagnosis and management of maple syrup urine disease. Genet Med. 2018;20(4):365-376.
Fischer J, Ghosh A, Longo R. Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Disorders. 3rd ed. Oxford University Press; 2021.
Waisbren SE, Cederbaum S, Wappner R, et al. Consensus clinical management guidelines for maple syrup urine disease. Orphanet J Rare Dis. 2018;13(1):196.
Strauss KA, Puffenberger EG, Carson VJ. Maple Syrup Urine Disease. In: Adam MP, et al., eds. GeneReviews. University of Washington; 2020.
WHO. Rare Diseases: Global Atlas of Rare Diseases. World Health Organization; 2021.
Medication Comparisons
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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