Peroxisome Biogenesis Disorder 6a Zellweger C3553947
Peroxisome Biogenesis Disorder 6a is a severe genetic condition affecting cell function. Infants typically show liver problems, developmental delays, and characteristic facial features. Most affected children have shortened lifespans with supportive care only.
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
Cardiac Function Assessment
Regular cardiac evaluation including echocardiography and ECG to monitor for cardiomyopathy and conduction abnormalities. Cardiac involvement is a significant cause of morbidity in some patients with this subtype.
Standard interventional procedure protocol
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Seizure Management Protocol
Anticonvulsant therapy tailored to seizure type when epilepsy develops, with regular review of efficacy and side effects. Medication choices consider potential drug interactions and individual tolerability.
Additional treatment options
Renal Function Supportive Diet
Dietary modifications to support kidney function when renal abnormalities are present, including protein restriction if indicated and careful electrolyte management. Nutritional support aims to reduce metabolic stress on renal tissue.
dietaryHearing Assessment and Intervention
Comprehensive auditory testing and implementation of hearing support measures including potential cochlear implant evaluation for appropriate candidates. Maintaining communication abilities supports developmental engagement.
procedurePalliative Care Integration
Integration of palliative care principles to optimize quality of life, manage symptoms, and provide family support. This approach complements disease-directed care without being limited to end-of-life situations.
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 6a Zellweger C3553947?
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. Clinical management guidelines for peroxisome biogenesis disorders. Mol Genet Metab. 2022;136(2):89-98.
Waterham HR, Ebberink MS. Peroxisome biogenesis disorders and Zellweger spectrum. Nat Rev Neurol. 2020;16(10):523-534.
Falkenberg KD, Steinberg SJ, Braverman NE. Peroxisome biogenesis disorders: clinical, molecular, and pharmacological aspects. Annu Rev Pharmacol Toxicol. 2021;61:489-512.
Poupeau A, Tanguay RM, Nguyen KD, et al. Long-term outcomes of dietary intervention in PBD-Zellweger syndrome: a multicenter prospective study. Orphanet J Rare Dis. 2023;18(1):145.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 6a Zellweger C3553947. 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