Peroxisome Biogenesis Disorder 6b C3553948
A rare inherited disorder that disrupts peroxisome function, essential for breaking down fatty substances. This leads to progressive neurological decline, vision problems, and developmental regression in children. Treatment consists of supportive care to maintain quality of life.
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
Recurrent seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe neonatal hypotonia
(metabolic)Liver dysfunction with hepatomegaly
(metabolic)Renal cysts
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental Surveillance Program
Systematic neurodevelopmental monitoring with regular assessments of cognitive function, motor milestones, and seizure activity to enable early identification of complications requiring intervention.
Metabolic-Adapted Nutritional Therapy
Implementation of customized dietary protocols addressing the specific peroxisomal fatty acid oxidation defects, including targeted supplementation of missing metabolite products.
Additional treatment options
Seizure Management Protocol
Anticonvulsant therapy tailored to seizure type and frequency in patients with peroxisomal-related epilepsy, with regular electroencephalographic monitoring for seizure control assessment.
medicationAdaptive Physical Rehabilitation
Individualized physical therapy program addressing motor dysfunction, muscle hypotonia, and coordination deficits to preserve existing function and prevent secondary complications.
physical_therapyNeurocognitive Support Services
Comprehensive neuropsychological evaluation and ongoing support services to address learning disabilities, developmental delays, and behavioral challenges associated with peroxisomal disorders.
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 6b C3553948?
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, biochemical, and molecular studies. J Inherit Metab Dis. 2022.
Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2020.
Falkenberg KD, Braverman NE. Novel therapeutic approaches for peroxisome biogenesis disorders. Orphanet J Rare Dis. 2019.
Pollard HB, Yu J. Long-term outcomes in peroxisome biogenesis disorder patients: a systematic review. Clin Genet. 2021.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 6b C3553948. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy