Peroxisome Biogenesis Disorder 2b C3550234
A genetic condition that impairs the formation of peroxisomes, which are needed for energy production and detoxification. Children may have brain abnormalities, poor muscle tone, and liver dysfunction. Care focuses on supportive measures and symptom management.
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
Optic nerve atrophy
Failure to thrive
(general)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatic dysfunction
(gastrointestinal)Renal cysts
(renal)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hepatic function monitoring
Regular assessment of liver function including bilirubin levels, liver enzymes, and coagulation studies due to the significant hepatic involvement in this disorder. Ultrasound imaging may be used to monitor liver architecture.
Feeding tube placement for nutritional support
Gastrostomy tube placement when oral intake is insufficient or swallowing difficulties compromise nutrition. Ensures adequate caloric intake and medication administration in patients with significant feeding challenges.
Additional treatment options
Bile acid replacement therapy
Administration of bile acids such as cholic acid or chenodeoxycholic acid to improve bile flow and reduce liver damage. Treatment requires monitoring of liver function and bile acid levels.
medicationRespiratory therapy and chest physiotherapy
Techniques to maintain lung clearance including percussion, positioning, and breathing exercises. May include suctioning and airway clearance devices to prevent respiratory complications.
physical_therapyDevelopmental intervention services
Early childhood developmental programs providing speech therapy, occupational therapy, and special education support. Services focus on maximizing functional abilities and independence.
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 2b C3550234?
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: clinical, biochemical, and molecular studies. Orphanet J Rare Dis. 2020.
Braverman NE, Raymond GV, Rizzo WB, et al. Consensus guidelines for the diagnosis and management of peroxisome biogenesis disorders. Mol Genet Metab. 2022.
Ebberink MS, Mooijer PA, Gootjes J, et al. Genetic classification of patients with peroxisome biogenesis disorders using PEX gene sequencing. Hum Mutat. 2019.
Van Vliet K, Berendse K, Engelen M, et al. Long-term outcomes of patients with peroxisome biogenesis disorders: a systematic review. J Inherit Metab Dis. 2023.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 2b C3550234. 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 20, 2026. · Read our editorial policy