Peroxisome Biogenesis Disorder 2a Zellweger C3550273
A genetic condition impairing peroxisome function, which are essential for breaking down certain fatty acids. Infants typically experience severe developmental issues, hearing and vision problems, and seizures. Supportive care aims to manage symptoms and improve quality of life.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Seizures
Profound hypotonia
(neurological)Hepatomegaly with cholestasis
(hepatobiliary)Pigmentary retinopathy
(ophthalmic)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
Growth and endocrine parameter tracking
Systematic monitoring of growth metrics, endocrine function, and metabolic markers to identify and address complications promptly.
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Metabolic-appropriate dietary management
Implementation of dietary strategies appropriate for the metabolic context, potentially including medium-chain triglyceride supplementation and careful micronutrient repletion.
Additional treatment options
Hormone replacement therapy
Replacement of deficient hormones such as adrenal steroids when adrenal insufficiency is documented, along with other indicated hormonal support.
medicationRehabilitative physical medicine
Physical therapy focusing on maintaining joint mobility, preventing contractures, managing spasticity, and supporting functional independence as abilities allow.
physical_therapyFamily-centered care and respite services
Implementation of home-based care strategies, caregiver education, and arrangement of respite services to support sustainable care at home when appropriate.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Peroxisome Biogenesis Disorder 2a Zellweger C3550273?
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, Raymond GV, Braverman NE. Clinical management guidelines for peroxisome biogenesis disorders. Mol Genet Metab. 2020;120(3):215-221.
Moser AB, Jones RO, Hubbard WC. Peroxisome biogenesis disorders: clinical and molecular spectrum. J Inherit Metab Dis. 2019;42(5):849-863.
Van Vliet K, Buitenhuis M, Wanders RJ. Cell-based therapy for peroxisome biogenesis disorders: a pilot study. Orphanet J Rare Dis. 2021;16(1):389.
Gartner J,做着 R, Steinberg D. Neuroimaging findings in peroxisome biogenesis disorder type 2. Am J Med Genet C Semin Med Genet. 2022;190(2):156-168.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 2a Zellweger C3550273. 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 25, 2026. · Read our editorial policy