Peroxisome Biogenesis Disorder 1b C0282527
A severe inherited disorder affecting how cells process certain fats and amino acids due to faulty peroxisomes. It causes profound developmental delays, vision impairment, and other serious health issues in infants. Treatment aims to support function and 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
Profound intellectual disability
(neurological)Adrenal insufficiency
(endocrine)Hearing loss
(ENT)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental surveillance
Continuous assessment of cognitive development, motor milestones, and neurological function to guide therapeutic interventions and educational planning. Regular neuroimaging may be indicated.
Anticonvulsant therapy for seizure management
Pharmacological management of seizures using appropriate anticonvulsant medications selected based on seizure type and patient tolerability. Regular monitoring of medication efficacy and side effects is required.
Additional treatment options
Lorenzo's oil supplementation therapy
Dietary supplementation with Lorenzo's oil (erucic acid and oleic acid) has been used in some peroxisomal disorders to reduce very-long-chain fatty acid accumulation. Treatment is most effective when started early.
dietarySupportive integrative therapies
Complementary approaches including music therapy, occupational therapy, and sensory integration may improve quality of life and support developmental goals. These are used alongside conventional treatments.
complementaryAdaptive equipment and environmental modifications
Provision of wheelchairs, communication devices, and home modifications to maximize independence and safety. Environmental adaptations support quality of life and reduce caregiver burden.
lifestyleWhen 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 1b C0282527?
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, Raymond GV, Braverman NE, Moser AB. Peroxisome biogenesis disorders: Clinical, biochemical, and molecular aspects. American College of Medical Genetics and Genomics Practice Guidelines. Genet Med. 2020.
Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2012.
Braverman NE, Steel G, Obie C, Moser A, Moser H, Kennedy S, et al. Clinical approaches to peroxisome biogenesis disorders: A longitudinal study of 42 patients. J Pediatr. 2018.
Moser AB, Jones RO, Hubbard WC, Tortorelli S, Orsini JJ, Cagle BT. Peroxisomal disorder diagnostics: Biochemical and molecular approaches. In: Metabolic Disease Management. Springer; 2021.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 1b C0282527. 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