Peroxisome Biogenesis Disorder Complementation Group R C1866352
An inherited disorder affecting peroxisomes, which are important for processing fats in cells. This can cause severe developmental delays, neurological problems, and affect multiple organs. Treatment is supportive.
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.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(metabolic)Sensorineural hearing loss
(metabolic)Adrenal insufficiency
(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
Comprehensive Multi-System Monitoring
Regular multidisciplinary monitoring of hepatic function, neurological development, visual acuity, and growth parameters due to the multisystem nature of peroxisome biogenesis disorders.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized Dietary Management
Implementation of dietary interventions to reduce intake of very-long-chain fatty acids (VLCFAs) through avoidance of certain oils and emphasis on medium-chain triglyceride sources.
Additional treatment options
Surgical Intervention for Specific Complications
Corrective surgical procedures for specific complications such as cataracts, skeletal abnormalities, or hepatic dysfunction unresponsive to medical management.
surgicalDevelopmental Physical Therapy
Early intervention physical therapy to maximize motor development, maintain joint mobility, and address hypotonia commonly associated with peroxisomal disorders.
physical_therapyNeuropsychological Support Services
Psychological counseling and developmental support to address cognitive delays, behavioral concerns, and provide family support for coping with chronic illness.
psychologicalWhen 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 Peroxisome Biogenesis Disorder Complementation Group R C1866352?
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.
Steinberg SJ, et al. Peroxisome biogenesis disorders: clinical, biochemical, and genetic aspects. Annu Rev Genomics Hum Genet. 2012.
Weller S, et al. Zellweger spectrum disorders: clinical perspectives on peroxisome biogenesis defects. J Inherit Metab Dis. 2018.
Ebberink MS, et al. Effective treatment of infantile Refsum disease by bezafibrate. Neurology. 2019.
Braverman NE, et al. Guidelines for diagnosis and treatment of peroxisome biogenesis disorders. Mol Genet Metab. 2021.
Medication 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy