Intermediate Milder Zellweger Spectrum Disorder Neonatal Adrenoleukodystrophy Infantile Refsum Disease Heimler Syndrome Cn381137
A group of rare genetic disorders affecting cell function, impacting multiple organs including brain, liver, and eyes. Symptoms appear in infancy. Treatment focuses on symptom management and supportive care.
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
Hepatomegaly
(metabolic)Sensorineural hearing loss
(metabolic)Retinitis pigmentosa
(metabolic)Cardiac arrhythmia
(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
Specialized Dietary Management
Implementation of dietary modifications including restriction of very long chain fatty acids, supplementation with docosahexaenoic acid, and attention to nutritional status to support overall health.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Disease Surveillance
Comprehensive monitoring of hepatic function, neurological status, vision, hearing, adrenal function, and growth parameters to detect and address complications early.
Additional treatment options
Adrenal Hormone Replacement
Corticosteroid replacement therapy for adrenal insufficiency commonly seen in this peroxisomal disorder, with stress dosing protocols for illness or surgery.
medicationSupportive Physical Rehabilitation
Physical therapy maintaining joint mobility, muscle strength, and functional abilities, with adaptations for sensory deficits and motor challenges.
physical_therapyHearing and Vision Support Services
Audiological and ophthalmological interventions including hearing aids, vision aids, and sensory support to maximize remaining sensory function.
complementaryWhen 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 Intermediate Milder Zellweger Spectrum Disorder Neonatal Adrenoleukodystrophy Infantile Refsum Disease Heimler Syndrome Cn381137?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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 25, 2026. · Read our editorial policy