Peroxisome Biogenesis Disorder 11b C3554001
A rare genetic condition where cells cannot form working peroxisomes, leading to buildup of harmful substances. Affected children often experience neurological problems, vision loss, and hearing difficulties. Care involves supportive treatments and monitoring of multiple organs.
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
Vision loss
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Progressive multisystem monitoring
Ongoing assessment of neurological status, hepatic function, endocrine parameters, and sensory function through coordinated specialist care.
Targeted symptom management
Pharmacological management of seizures, spasticity, and other neurological symptoms with regular therapy review and optimization.
Additional treatment options
Enteral nutrition support
Assessment for tube feeding requirements in patients with swallowing difficulties or inadequate oral intake to maintain nutritional status.
dietarySpasticity and mobility management
Physical therapy interventions including stretching, positioning, and mobility training to manage spasticity and prevent contractures.
physical_therapyFamily-centered psychosocial support
Counseling and support services for families managing chronic severe disability, including respite care planning and crisis intervention.
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 11b C3554001?
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, Moser AB, Raymond GV. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2019.
Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders: diagnostic and clinical guidelines. Mol Genet Metab. 2020.
Lawson CA, Gutierrez MG, Waterham HR. Gene therapy approaches for peroxisome biogenesis disorders. Orphanet J Rare Dis. 2022.
Fujiki Y, Yagita Y, Matsuzaki T. Peroxisome biogenesis and human disease: PEX gene mutations and clinical manifestations. Prog Lipid Res. 2021.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 11b C3554001. 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