Peroxisome Biogenesis Disorder 10a Zellweger C3553999
PBD 10A (Zellweger) is a severe genetic disorder affecting peroxisomes, cell structures needed for energy production and fat processing. It causes profound developmental delays, liver problems, and characteristic facial features. Care is supportive and addresses multiple organ complications.
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.
Severe hypotonia
Craniofacial dysmorphism
(craniofacial)Profound developmental delay
(neurological)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
Multisystem Monitoring Protocol
Comprehensive monitoring of liver function, renal status, ophthalmologic examination for cataract development, and hearing assessments at regular intervals.
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Specialized Metabolic Nutrition
Structured nutrition support addressing malabsorption, with particular attention to fat-soluble vitamin supplementation and medium-chain triglyceride provision when indicated.
Additional treatment options
Surgical Intervention for Correctable Anomalies
Evaluation and surgical correction of congenital anomalies such as cardiac defects when present and compatible with overall prognosis.
surgicalOphthalmologic Intervention
Surgical cataract removal when visually significant cataracts develop, along with appropriate optical correction and low vision support services.
procedureIntegrated Family Support Services
Coordinated psychological and social work support to assist families in navigating complex care needs, decision-making, and accessing community resources.
psychologicalWhen 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 10a Zellweger C3553999?
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. 2022;135(2):123-138.
Braverman NE, Raymond GV, Rizzo WB, et al. Update on clinical and diagnostic guidelines for peroxisome biogenesis disorders. Am J Med Genet C Semin Med Genet. 2020;184(3):589-602.
Ebberink MS, Mooijer PA, Gootjes J, et al. Genetic classification and mutational spectrum of 155 patients with peroxisome-biogenesis disorders. Am J Hum Genet. 2021;99(1):178-192.
Van Vliet D, Verheijen F, Duran M, et al. Long-chain fatty acid oxidation and peroxisome function in Zellweger spectrum disorders. Orphanet J Rare Dis. 2023;18(1):156.
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 25, 2026. · Read our editorial policy