Peroxisome Biogenesis Disorder Due To Pex11b Defect Cn305492
A severe genetic disorder affecting peroxisome formation, leading to problems with fat metabolism and energy production in cells. It causes neurological impairment, developmental delays, and often liver dysfunction. Management is supportive, addressing specific symptoms as they develop.
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
Recurrent seizures
Optic nerve atrophy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia with feeding difficulties
(metabolic)Cardiac anomalies
(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 Neurologic Monitoring
Regular neurological assessments including MRI, EEG, and developmental evaluations to track disease progression and inform treatment adjustments.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Environmental Optimization and Safety
Home and environmental modifications to accommodate motor impairments, prevent injuries, and support daily living activities.
Additional treatment options
Metabolic-Supportive Nutritional Intervention
Implementation of a balanced diet supporting overall metabolic function with consideration for any identified metabolic vulnerabilities in PEX11B deficiency.
dietaryRehabilitative Physical Medicine
Structured physical therapy program targeting spasticity management, joint mobility, and functional movement patterns to maximize independence.
physical_therapySupportive Integrative Care
Complementary approaches such as massage therapy and gentle yoga to support muscle function, reduce discomfort, and improve quality of life as adjuncts to primary care.
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 Due To Pex11b Defect Cn305492?
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 and Pex11b deficiency. Orphanet J Rare Dis. 2019.
Waterham HR, Ebberink MS, Steinberg SJ. Clinical management guidelines for peroxisome biogenesis disorders. J Inherit Metab Dis. 2020.
Ito T, Fujiki Y, Miki S. Novel Pex11b mutation causing peroxisome biogenesis defect. Mol Genet Metab Rep. 2018.
Smith CE, Southard S, Wanders RJ. Peroxisomal disorders: Diagnostic and therapeutic approaches. Prog Lipid Res. 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.
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 20, 2026. · Read our editorial policy