Non Zellweger Spectrum Disorder Cn305506
A genetic disorder affecting how the body processes fatty acids and certain substances. It can cause severe neurological, liver, and developmental problems. Treatment involves dietary modifications and supportive care for specific symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe intellectual disability
(neurological)Hypotonia
(musculoskeletal)Retinal dystrophy
(ophthalmic)Renal cysts
(renal)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Plasmalogen supplementation
Dietary supplementation with plasmalogens to address the underlying phospholipid deficiency characteristic of this peroxisomal disorder. This may help support neurological and developmental functions.
Phytanic acid restricted diet
Implementation of a diet low in phytanic acid content to reduce accumulation of this branched-chain fatty acid that cannot be properly metabolized in peroxisomal disorders.
Additional treatment options
Comprehensive multidisciplinary monitoring
Regular assessments including neuroimaging, liver function tests, and developmental evaluations to track disease progression and organ involvement.
monitoringEarly intervention physical therapy
Structured physical therapy program targeting motor delays, hypotonia, and joint contractures commonly associated with peroxisomal disorders.
physical_therapySupportive care and family education
Comprehensive supportive measures including adaptive equipment, home modifications, and family education to optimize quality of life and daily functioning.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Non Zellweger Spectrum Disorder Cn305506?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Non Zellweger Spectrum Disorder Cn305506. 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.
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