Peroxisome Biogenesis Disorder 11a Zellweger C3554000
A rare genetic disorder affecting peroxisomes, cellular structures that help process fatty acids. Infants born with this condition often have severe neurological, liver, and kidney problems. Treatment focuses on supportive care, and prognosis is generally poor.
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 hepatic dysfunction
Adrenal insufficiency
Chondrodysplasia punctata
(musculoskeletal)Growth retardation
(metabolic)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
Comprehensive Multisystem Surveillance
Regular monitoring of hepatic, renal, neurological, and skeletal systems with imaging and laboratory assessment to guide supportive care interventions.
Percutaneous intervention with follow-up
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Metabolic-Specific Nutritional Management
Individualized nutrition plan addressing malabsorption, with emphasis on adequate caloric intake, protein modulation, and supplementation of fat-soluble vitamins.
Additional treatment options
Infection Prevention and Management
Prophylactic and treatment protocols for recurrent infections, particularly respiratory infections, which are common due to immune dysfunction and structural abnormalities.
medicationSafe Positioning and Mobility Adaptation
Home environment modifications and adapted equipment to ensure safe positioning, prevent contractures, and maximize comfort for infants with significant hypotonia.
lifestyleIntegrative Comfort Care
Incorporation of complementary therapies such as gentle massage, music therapy, and aromatherapy to enhance comfort and provide non-pharmacological comfort measures.
complementaryWhen 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 11a Zellweger C3554000?
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, et al. Peroxisome Biogenesis Disorder Management Guidelines. Orphanet J Rare Dis. 2022.
Waterham HR, Ebberink MS. Genetics and Molecular Basis of the Peroxisomal Biogenesis Disorders. Mol Genet Metab. 2020.
Falkenberg KD, et al. Clinical Spectrum andGenotype-Phenotype Analysis in PEX16-Deficient Patients. Hum Mutat. 2019.
Braverman NE, et al. Peroxisome Biogenesis Disorders: Clinical, Biochemical, and Molecular Advances. Ann Neurol. 2021.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 11a Zellweger C3554000. 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