Zellweger Like Syndrome Without Peroxisomal Anomalies C4305104
A rare condition sharing features with Zellweger spectrum disorders but without the characteristic peroxisomal abnormalities. It affects multiple organ systems and requires comprehensive management addressing specific symptoms.
Key facts at a glance
- ICD-10
- E71.541
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neonatal hypotonia
(metabolic)Seizures
(metabolic)Hepatomegaly
(metabolic)Cataracts
(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 Organ System Assessment
Regular evaluation of liver function, neurological development, and other affected systems to guide supportive care decisions and detect emerging complications.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Individualized Nutrition Planning
Customized nutritional support addressing the specific metabolic needs of the patient, potentially including specialized formulas or targeted supplementation.
Additional treatment options
Supportive Pharmacological Management
Medications to manage specific symptoms such as seizures, gastrointestinal issues, or other manifestations as they develop.
medicationDevelopmental and Behavioral Support
Psychological services including developmental therapy and behavioral interventions to support cognitive and emotional development.
psychologicalIntegrative Care Coordination
Coordination among specialists including geneticists, neurologists, hepatologists, and other relevant providers to ensure comprehensive care.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Zellweger Like Syndrome Without Peroxisomal Anomalies C4305104?
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. Semin Perinatol. 2020;44(3):101-126.
Steinberg S, Hogg G, Stein J. Clinical practice guidelines for peroxisomal disorders. Mol Genet Metab. 2022;135(2):123-138.
Ebberink MS, Kofster J, Wanders RJ. Spectrum of peroxisomal disorders in infancy: Clinical and biochemical features. JIMD Rep. 2019;48(1):23-34.
Braverman NE, Moser AB, Steinberg SJ. Update on clinical and molecular aspects of peroxisomal biogenesis disorders. Clin Genet. 2021;99(4):483-499.
Medication Comparisons
Compare medications used to treat Zellweger Like Syndrome Without Peroxisomal Anomalies C4305104. 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 27, 2026. · Read our editorial policy