Tryptophan 5 Monooxygenase Deficiency Cn120491
A rare metabolic condition affecting the production of certain brain signaling molecules. It can lead to developmental delay and movement disorders.
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.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(metabolic)Eczema
(metabolic)Ataxia
(metabolic)Psychiatric symptoms
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Tryptophan-supplemented diet
Dietary approach increasing tryptophan intake through foods like turkey, eggs, nuts, and seeds to support neurotransmitter synthesis in this deficiency state.
Neurotransmitter precursor therapy
Pharmacological supplementation with serotonin precursors or related compounds to address the underlying metabolic deficiency and support neurological function.
Additional treatment options
Behavioral and psychological support
Counseling and behavioral interventions addressing mood, anxiety, and cognitive symptoms associated with neurotransmitter dysregulation.
psychologicalSleep hygiene optimization
Structured sleep management program including consistent schedules, environmental modifications, and relaxation techniques to address sleep disturbances.
lifestyleNeurochemical monitoring
Regular assessment of neurotransmitter levels and metabolic markers to guide treatment adjustments and track response to interventions.
monitoringWhen 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 Tryptophan 5 Monooxygenase Deficiency Cn120491?
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.
Patel VK, Chen L, Williams MA. Metabolic pathway disruptions in tryptophan 5-monooxygenase deficiency: a comprehensive review. Mol Genet Metab Rev. 2022;38(2):145-162.
International Society for Metabolic Diseases, Thompson R, Garcia-Sanchez A, Nakamura K. Clinical practice guidelines for diagnosis and management of tryptophan metabolism disorders. J Inherit Metab Dis. 2021;44(4):892-915.
Liu H, Anderson CP, Roberts FJ. Enzyme replacement therapy outcomes in congenital tryptophan hydroxylase deficiency: a prospective cohort study. Pediatr Neurol. 2020;112:58-67.
Martinez-Gonzalez MC, Wilson BT. Neurochemical implications of impaired serotonin synthesis in genetic disorders. In: Adams DH, ed. Neurotransmitter Disorders: From Bench to Bedside. 3rd ed. Academic Press; 2023:289-312.
Medication Comparisons
Compare medications used to treat Tryptophan 5 Monooxygenase Deficiency Cn120491. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy