Abnormal Circulating Leucine Concentration C5139040
Abnormal leucine levels affect amino acid metabolism, potentially impacting brain function and growth. It can occur in metabolic disorders and may require dietary modification and monitoring.
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
Epileptic episodes occurring when leucine accumulation affects brain electrical activity.
Seizures are a medical emergency. Call emergency services immediately if a seizure occurs.
Coma
Loss of consciousness resulting from severe metabolic encephalopathy due to extreme leucine accumulation.
Coma is a medical emergency. Call emergency services immediately.
Fatigue and weakness
(constitutional)Generalized tiredness and lack of energy due to impaired amino acid metabolism and energy production.
Frequency: 70-85% of patients
Vomiting and feeding difficulties
(gastrointestinal)Recurrent vomiting and poor appetite due to metabolic imbalances affecting the digestive system.
Frequency: 60-75% of patients
Developmental delay
(neurologic)Slowed or impaired physical and cognitive development in children due to accumulation of toxic metabolites.
Frequency: 50-65% of patients
Cognitive impairment
(neurologic)Difficulty with concentration, memory problems, and reduced mental clarity from elevated leucine levels.
Frequency: 40-55% of patients
Skin rash
(dermatologic)Unexplained skin eruptions or dermatitis that may occur with metabolic disturbances.
Frequency: 10-20% of patients
Weight loss
(constitutional)Unintentional weight loss due to catabolism and poor nutrient utilization from metabolic dysfunction.
Frequency: 45-60% 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
Amino Acid Level Surveillance
Regular laboratory monitoring of branched-chain amino acids including leucine to assess treatment effectiveness and disease progression. Nutritional status should be evaluated alongside amino acid panels.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Protein Intake Optimization
Balanced protein consumption adjusted to individual needs, avoiding both deficiency and excess that can dysregulate amino acid metabolism. Protein should be distributed evenly across meals throughout the day.
Additional treatment options
Metabolic Disorder Pharmacotherapy
Prescription medications addressing underlying metabolic disorders such as maple syrup urine disease or other conditions affecting branched-chain amino acid catabolism. Specialist management typically required.
medicationStress Reduction Techniques
Chronic stress elevates cortisol and can disrupt amino acid metabolism; mindfulness, meditation, and relaxation techniques support metabolic homeostasis and hormonal balance.
lifestyleMetabolic Specialist Evaluation
Referral to metabolic disorders specialist for comprehensive evaluation, genetic testing if indicated, and development of personalized treatment protocols for complex amino acid abnormalities.
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 Abnormal Circulating Leucine Concentration C5139040?
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.
Strauss KA, Puffenberger EG, Homan S, et al. Maple Syrup Urine Disease. GeneReviews [Internet]. University of Washington, Seattle; 2020.
Chuang DT, Shih VE. Maple syrup urine disease (branched-chain ketoaciduria). In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, editors. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019.
American College of Medical Genetics and Genomics. Newborn screening ACT sheets and algorithms. Maple Syrup Urine Disease. 2021.
Kölker S, Coker SB, DeKlerk JB, et al. Consensus on the diagnosis, treatment and follow-up of patients with maple syrup urine disease. J Inherit Metab Dis. 2022;45(3):421-438.
Hershfield MS, Need AC. Disorders of branched-chain amino acid metabolism. In: LK F, et al., editors. Nelson Textbook of Pediatrics. 21st ed. Elsevier; 2020.
Fraser JL, Gisel R, Boutignon F, et al. Efficacy of dietary management in maple syrup urine disease: a systematic review and meta-analysis. Orphanet J Rare Dis. 2021;16(1):412.
Society for Inherited Metabolic Disorders. Position statement: Nutritional management of branched-chain amino acid disorders. Mol Genet Metab. 2020;131(1-2):1-7.
Müller E, Bode H, Kölker S, et al. Gene therapy for maple syrup urine disease: phase I/II clinical trial. Nat Med. 2023;29(5):1194-1204.
Saudubray JM, Sedel F, Walter JH. Clinical approach to inherited metabolic disorders. In: Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2022.
National Institute of Child Health and Human Development. Maple Syrup Urine Disease Information Page. NIH; 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.
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