Peroxisome Biogenesis Disorder 9b C2749346
A severe disorder where faulty genes prevent proper formation of peroxisomes, important for breaking down fatty acids. This causes severe intellectual disability, vision and hearing problems, and liver disease. Treatment involves managing symptoms and preventing 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
Retinal dystrophy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound developmental delay
(metabolic)Liver dysfunction with cholestasis
(metabolic)Renal cysts
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Specialty Care Coordination
Regular monitoring by a team of specialists including genetics, neurology, ophthalmology, hepatology, and developmental pediatrics to manage systemic manifestations and coordinate care.
Specialized Nutritional Support
Dietary management with attention to peroxisome-dependent metabolic pathways, potentially including supplementation with docosahexaenoic acid (DHA) and other fatty acids as supported by emerging research.
Additional treatment options
Developmental Physical Therapy
Early intervention physical therapy to address hypotonia, motor developmental delays, and improve functional mobility and muscle strength.
physical_therapyOphthalmologic Surgical Intervention
Surgical correction for cataracts and other ocular abnormalities common in peroxisome biogenesis disorders to preserve or restore vision when possible.
surgicalAnticonvulsant Therapy for Seizure Management
Symptomatic management of seizure activity using anticonvulsant medications appropriate for the patient's seizure type and age, requiring regular therapeutic monitoring.
medicationWhen 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 9b C2749346?
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 Spectrum and Management Strategies. J Inherit Metab Dis. 2021.
Ebberink MS, et al. Clinical and Molecular Characterization of Peroxisome Biogenesis Disorder Subtype 9B. Mol Genet Metab. 2019.
Braverman NE, et al. International Guidelines for the Diagnosis and Management of Peroxisome Biogenesis Disorders. Orphanet J Rare Dis. 2022.
Falkenberg KD, et al. Peroxisomal Import Deficiency: Pathophysiology and Therapeutic Approaches. Trends Mol Med. 2020.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 9b C2749346. 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