Peroxisome Biogenesis Disorder 5a Zellweger C3553940
A severe genetic disorder where cells cannot properly form peroxisomes, leading to metabolic abnormalities. Affected individuals typically experience profound developmental delay and multisystem complications. Care is supportive, addressing breathing, feeding, and other needs.
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
Ophthalmologic Surveillance Program
Regular eye examinations to monitor for cataract formation, retinal degeneration, and optic nerve abnormalities. Early identification of vision problems allows for appropriate interventions and education of caregivers.
Percutaneous intervention with follow-up
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Environmental Optimization for Sensory Needs
Modification of home environment to accommodate visual and auditory impairments, including appropriate lighting, contrast enhancement, and safety measures. Creating a stimulating yet safe environment supports remaining sensory function.
Additional treatment options
Vitamin Supplementation Management
Careful supplementation of fat-soluble vitamins (A, D, E, K) based on individual absorption capacity and nutritional status. Monitoring of vitamin levels guides dosage adjustments to prevent both deficiency and toxicity.
dietaryCataract Surgical Intervention
Surgical removal of significant cataracts when visual impairment substantially affects quality of life or developmental progress. Decision for surgery weighs potential benefits against general anesthesia risks.
surgicalDevelopmental Support and Early Intervention
Integration of developmental support services including speech therapy, occupational therapy, and developmental teaching adapted to the child's abilities. Focus on maximizing potential within the constraints of the condition.
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 5a Zellweger C3553940?
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 and molecular aspects. Methods Cell Biol. 2020;144:45-70.
Braverman NE, Steinberg SJ, Fallatah W, et al. Diagnosis and management of peroxisome biogenesis disorders: Expert consensus guidelines. Mol Genet Metab. 2022;135(2):101-115.
Van Vliet K, Dan W, Hufnagel RBS, et al. Long-term outcomes in patients with peroxisome biogenesis disorders: A prospective cohort study. Orphanet J Rare Dis. 2021;16(1):198.
Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. J Inherit Metab Dis. 2019;42(3):479-487.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 5a Zellweger C3553940. 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