Peroxisome Biogenesis Disorder 10b C4479254
A genetic disorder affecting peroxisomes, cellular structures that help process fatty acids and toxins. Children with this condition may have developmental delays, vision and hearing problems, and liver issues. Treatment focuses on managing symptoms and supporting development.
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
Vision loss
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe intellectual disability
(neurologic)Hearing loss
(ENT)Liver dysfunction
(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
Organ system surveillance program
Systematic monitoring of liver function, neurological development, vision, and hearing through regular specialist consultations and diagnostic testing.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Nutritional support therapy
Caloric supplementation and specialized feeding strategies to address growth failure and ensure adequate nutrient absorption during critical development periods.
Additional treatment options
Hepatic function support procedures
Interventions for severe liver involvement including ursodeoxycholic acid therapy and monitoring for hepatic dysfunction progression.
procedureSymptom-directed pharmacotherapy
Management of specific manifestations including anticonvulsants for seizures, anti-reflux medications, and targeted supplementation.
medicationDevelopmental intervention services
Early childhood intervention programs incorporating speech, occupational, and physical therapy to maximize developmental potential.
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 Peroxisome Biogenesis Disorder 10b C4479254?
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 practice guidelines for diagnosis and management. Mol Genet Metab. 2021.
Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2020.
Mayerhofer PU, et al. Long-term outcome of patients with peroxisome biogenesis disorders: a retrospective cohort study. Orphanet J Rare Dis. 2022.
Viola F, et al. Diagnostic accuracy of biochemical markers for peroxisome biogenesis disorders: a systematic review and meta-analysis. Clin Biochem. 2023.
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.
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 27, 2026. · Read our editorial policy