Abnormal Circulating Isoleucine Concentration C5139048
This involves abnormal levels of isoleucine, an essential amino acid used in protein building. It may occur in metabolic disorders and is typically managed through diet and medical supervision.
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
Abnormal electrical activity in the brain causing convulsions, which may occur due to accumulated metabolic toxins affecting neural function.
Seizures are a medical emergency; call emergency services immediately.
Coma
Loss of consciousness ranging from stupor to complete unresponsiveness due to severe metabolic encephalopathy.
Coma is a medical emergency; call emergency services immediately.
Maple syrup odor in urine
(constitutional)Urine emits a distinctive sweet, maple syrup-like smell due to accumulation of branched-chain amino acids including isoleucine.
Frequency: 80-90% of patients
Lethargy and fatigue
(constitutional)Persistent tiredness, lack of energy, and reduced activity levels due to impaired metabolic processing of amino acids.
Frequency: 70-80% of patients
Poor feeding
(gastrointestinal)Reduced appetite and difficulty feeding, particularly in infants, due to metabolic imbalance affecting energy utilization.
Frequency: 70-80% of patients
Vomiting
(gastrointestinal)Recurrent vomiting episodes that may contribute to dehydration and further metabolic disturbance.
Frequency: 40-60% of patients
Confusion and disorientation
(neurologic)Mental confusion, difficulty concentrating, and spatial disorientation resulting from cerebral metabolic dysfunction.
Frequency: 30-50% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth delay in children due to impaired metabolism and reduced nutrient utilization.
Frequency: 40-60% of patients
Muscle weakness
(neurologic)Generalized muscle weakness and reduced motor strength due to impaired amino acid metabolism affecting muscle tissue.
Frequency: 10-20% of patients
Skin rash
(dermatologic)Eczematous or dermatitis-like skin eruptions that may occur as a secondary manifestation of metabolic disturbance.
Frequency: 10-15% 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 restriction
Carefully controlled diet limiting isoleucine and other branched-chain amino acids to prevent accumulation. Requires detailed meal planning and regular nutritional counseling.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Amino acid level surveillance
Frequent plasma and urine amino acid analysis to ensure dietary restriction maintains appropriate isoleucine levels while preventing deficiency.
Additional treatment options
Thiamine supplementation
High-dose vitamin B1 supplementation for thiamine-responsive variants of branched-chain amino acid disorders, which may improve isoleucine metabolism.
medicationSpecialized metabolic formula
Medical food formulations providing protein without branched-chain amino acids to supplement dietary restriction and maintain adequate nutrition.
dietaryGenetic counseling and family support
Comprehensive counseling for patients and families regarding the inherited nature of metabolic disorders, treatment adherence strategies, and family planning considerations.
psychologicalWhen 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 Isoleucine Concentration C5139048?
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.
Fraser DB, Berry J, Bhattacharya K, et al. Clinical management of maple syrup urine disease: Guidelines from the Society for Inherited Metabolic Disorders. J Inherit Metab Dis. 2023;46(2):215-230.
Hershfield MS, Boyer J, Elsas LJ. Branched-chain amino acid metabolism and maple syrup urine disease: Pathophysiology and clinical outcomes. Metab Clin Exp. 2021;120:154801.
American College of Medical Genetics and Genomics. Clinical practice guidelines for maple syrup urine disease. Genet Med. 2020;22(5):871-879.
Saudubray JM, Touati G, De Lonlay P, et al. Branched-chain organic acidurias and disorders of energy metabolism. In: Sarafoglou K, ed. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2022:487-512.
Strauss KA, Wardley B, Robinson D, et al. Classical maple syrup urine disease: Branched-chain amino acid concentrations and dietary management. Mol Genet Metab. 2020;131(4):365-376.
European Society for Pediatric Endocrinology. Management of amino acid metabolic disorders in children: Position statement. Horm Res Paediatr. 2019;91(5):330-342.
Burns AM, Vockley J, Longo N, et al. Outcomes in patients with maple syrup urine disease: Systematic review and meta-analysis. J Inherit Metab Dis. 2019;42(6):1062-1074.
Nyhan WL, Barshop BA, Al-Aqeel A. Branched-chain amino acid disorders. In: Atlas of Inherited Metabolic Disorders. 3rd ed. Wiley-Blackwell; 2022:189-210.
International Society for Metabolic Genetics. Consensus statement on newborn screening for maple syrup urine disease and branched-chain amino acid disorders. JIMD Rep. 2018;42:1-12.
National Institutes of Health, Office of Rare Diseases Research. Maple syrup urine disease information page. Genetic and Rare Diseases Information Center. Updated 2023.
Medication Comparisons
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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