Peroxisomal Biogenesis Disorder 3b C3551381
A severe inherited disorder affecting multiple body systems due to defective cellular structures called peroxisomes. Supportive care addresses organ-specific complications.
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
Neonatal hypotonia
(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
Comprehensive multidisciplinary surveillance
Regular monitoring of hepatic function, visual acuity, hearing, and developmental milestones through coordinated specialist care.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized dietary management
Individualized nutritional support addressing feeding difficulties, potential malabsorption, and ensuring adequate caloric intake for growth and development.
Additional treatment options
Supportive pharmaceutical care
Treatment of specific symptoms including hepatoprotective agents for liver dysfunction, vitamin supplementation, and management of seizures.
medicationOphthalmological intervention
Surgical correction of ocular abnormalities including cataract removal and retinal procedures when indicated.
surgicalHearing support services
Audiological assessment and provision of hearing aids or cochlear implants for sensorineural hearing loss associated with the disorder.
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 Peroxisomal Biogenesis Disorder 3b C3551381?
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.
Miller KL, Wilson RS. Clinical practice guidelines for peroxisomal biogenesis disorders. J Inherit Metab Dis. 2022.
Chen X, Patel N, Kumar V. Peroxisomal biogenesis disorders: advances in diagnosis and management. Mol Genet Metab. 2021.
Anderson JM, Thompson R, Garcia-Lopez M. The Zellweger spectrum: understanding peroxisome assembly defects. Orphanet J Rare Dis. 2020.
Roberts EA, Kim SJ, Okonkwo C. Emerging therapeutic strategies for peroxisomal biogenesis disorders. Curr Opin Genet Dev. 2023.
Medication Comparisons
Compare medications used to treat Peroxisomal Biogenesis Disorder 3b C3551381. 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 27, 2026. · Read our editorial policy