Peroxisome Biogenesis Disorder Complementation Group 6 C1832231
A genetic disorder that impairs peroxisome function, which is essential for processing fatty acids. This can result in developmental delays, vision and hearing loss, and seizures. Treatment aims to manage complications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sensorineural hearing loss
(otologic)Adrenal insufficiency
(endocrine)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
Comprehensive Multi-System Monitoring
Regular monitoring of hepatic function, neurological development, and vision/hearing status through a coordinated specialist team. Includes periodic laboratory testing and imaging to track disease progression and organ involvement.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized Metabolic Diet
Implementation of dietary interventions including phytanic acid restriction and careful management of very long chain fatty acid (VLCFA) intake through modified food selections to support metabolic function.
Additional treatment options
Developmental Physical Therapy
Structured physical therapy program addressing motor delays, hypotonia, and spasticity through targeted exercises, positioning, and adaptive techniques to maximize functional mobility.
physical_therapySymptomatic Seizure Management
Anticonvulsant therapy for seizure control using appropriate anti-epileptic medications as prescribed by a neurologist, with regular review of efficacy and side effects.
medicationNeurodevelopmental Support Services
Psychological and educational support services including cognitive assessment, behavioral interventions, and family counseling to address developmental challenges and improve quality of life.
psychologicalWhen 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 Peroxisome Biogenesis Disorder Complementation Group 6 C1832231?
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 practice guidelines for peroxisome biogenesis disorders. J Inherit Metab Dis. 2020.
Waterham HR, Ebberink MS, Steinberg SJ. Novel therapeutic approaches for peroxisome biogenesis disorders. Mol Genet Metab. 2022.
Fujiki Y, Okumoto K, Mukai S. Molecular basis of peroxisome biogenesis defects in complementation group 6. Biochim Biophys Acta. 2019.
Braverman NE, Steinberg SJ. Diagnosis and management of Zellweger spectrum disorders. Clin Genet. 2021.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder Complementation Group 6 C1832231. 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 20, 2026. · Read our editorial policy