Peroxisome Biogenesis Disorder Type 3b C3550693
A rare genetic disorder affecting peroxisomes, which help cells process fatty acids. It can cause developmental delays, vision and hearing problems, and other serious issues. Treatment is supportive and focuses on managing 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
Neonatal hepatomegaly
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound intellectual disability
(neurological)Hypotonia
(neurological)Craniofacial dysmorphism
(neurological)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
Anticonvulsant therapy
Seizure management through appropriate anticonvulsant medications addresses the seizure activity common in type 3b peroxisome biogenesis disorder. Medication selection considers the underlying metabolic dysfunction.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Fat-soluble vitamin supplementation
Supplementation with vitamins A, D, E, and K addresses deficiencies caused by impaired fat absorption in peroxisomal disorders. Regular monitoring of vitamin levels prevents toxicity and ensures adequacy.
Additional treatment options
Spasticity management therapy
Physical therapy interventions target spasticity and contracture prevention in patients with type 3b peroxisome biogenesis disorder. Stretching, positioning, and orthotic management are core components.
physical_therapyHepatic function monitoring
Regular liver function tests and imaging assess hepatomegaly and liver dysfunction common in peroxisome biogenesis disorders. Monitoring guides supportive care needs.
monitoringOccupational therapy for daily living
Occupational therapy supports development of independence in activities of daily living, adapted to the specific functional limitations of type 3b peroxisome biogenesis disorder. Adaptive equipment may be recommended.
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 Type 3b C3550693?
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. Mol Genet Metab. 2015;114(4):527-534.
Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders: diagnostic and clinical guidelines. JIMD Rep. 2020;54(1):15-28.
Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Nat Rev Genet. 2012;13(3):197-208.
Ebberink MS, Mooijer PA, Gootjes J, et al. Clinical and genetic characterization of patients with peroxisome biogenesis disorders. Hum Mutat. 2011;32(1):59-71.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder Type 3b C3550693. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy