Catechol O Methyltransferase Deficiency Cn235212
A rare metabolic disorder affecting processing of brain chemicals, potentially causing movement difficulties and developmental delays. Management focuses on symptom relief and supportive care.
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
Orthostatic hypotension
(cardiovascular)Tremor
(neurological)Hyperreflexia
(neurological)Developmental delay
(neurological)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Dopaminergic symptom management
Dopamine agonists or precursors may be considered to address dopaminergic dysfunction underlying COMT deficiency symptoms, with careful individual assessment of response.
Metabolic and neurological monitoring
Regular biochemical and clinical monitoring to assess disease progression, treatment response, and emerging complications in this rare metabolic disorder.
Additional treatment options
Motor development and hypotonia therapy
Targeted physical therapy addressing hypotonia and motor delays characteristic of COMT deficiency, focusing on strength, coordination, and functional movement skills.
physical_therapySpecialized dietary amino acid support
Dietary modifications including controlled protein intake and targeted amino acid supplementation to optimize catecholamine metabolism and neurotransmitter function.
dietaryNeurodevelopmental and behavioral support
Comprehensive cognitive support, behavioral interventions, and educational assistance addressing developmental delays and any associated behavioral or psychiatric features.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Catechol O Methyltransferase Deficiency Cn235212?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy