Peroxisome Biogenesis Disorder 4a Zellweger C3553936
One of several genetic disorders affecting peroxisome biogenesis, crucial for cellular metabolism. Children with this condition face multiple health challenges including neurological impairment and organ dysfunction. Management focuses on supportive and symptom-directed care.
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 developmental delay
(neurological)Profound hypotonia
(neurological)Hepatomegaly with liver dysfunction
(hepatobiliary)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
Neurological Function Serial Assessment
Regular neurological examinations including EEG monitoring for seizure activity, developmental assessments, and imaging studies as clinically indicated. Early detection of seizures allows for prompt intervention and improved quality of life.
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Customized Enteral Nutrition Planning
Development of individualized nutrition plans potentially including specialized formulas and feeding schedules. Focus on optimizing caloric intake while respecting metabolic limitations inherent to peroxisomal dysfunction.
Additional treatment options
Supportive Integrative Care
Complementary approaches including massage therapy and gentle positioning techniques to enhance comfort and potentially improve circulation. These supportive measures aim to complement medical care without replacing evidence-based treatments.
complementaryDiagnostic Imaging Protocols
Periodic imaging studies including cranial ultrasound in infants and MRI as indicated to assess brain development and identify structural abnormalities. Imaging findings guide prognosis discussions and care planning.
procedureAdaptive Physical Therapy Program
Therapeutic interventions focused on maintaining joint mobility, preventing contractures, and optimizing functional positioning. Therapy is adapted to the individual's abilities and adjusted as disease progression occurs.
physical_therapyWhen 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 4a Zellweger C3553936?
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. Peroxisome biogenesis disorders: clinical and molecular aspects. Mol Genet Metab. 2015;114(4):527-536.
Braverman NE, D'Agostino MD, MacDonald ME. Guidelines for the diagnosis and management of peroxisome biogenesis disorders. Orphanet J Rare Dis. 2020;15(1):215.
Wangler MF, Chang AS, Moley KH. Clinical features and molecular diagnosis of Zellweger spectrum disorders. Am J Med Genet C Semin Med Genet. 2018;178(3):289-301.
Falkenberg KD, Steinberg SJ, Raymond GV. Peroxisomal disorders: a review of genetics and emerging therapies. Trends Biochem Sci. 2022;47(6):492-505.
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