Peroxisome Biogenesis Disorder 4b C3553937
A disorder where genetic mutations prevent normal peroxisome development, affecting many body systems. Those affected typically have significant neurological impairment and sensory deficits. Treatment involves multidisciplinary supportive care.
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
Respiratory distress
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neurological regression
(neurological)Skeletal abnormalities
(musculoskeletal)Peripheral neuropathy
(neurological)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.
Ophthalmologic surveillance
Regular eye examinations to detect and manage cataracts, retinal degeneration, and optic nerve abnormalities common in peroxisome biogenesis disorders. Early intervention may preserve remaining vision.
Cataract extraction surgery
Surgical removal of cataracts to improve vision when lens opacification significantly impairs visual function. May be combined with intraocular lens implantation when appropriate.
Additional treatment options
Hearing impairment management
Appropriate interventions for hearing loss including hearing aids, cochlear implants in selected cases, and treatment of conductive hearing loss. Regular audiological assessment guides management decisions.
medicationDocosahexaenoic acid (DHA) supplementation
Supplementation with DHA, a fatty acid important for brain and eye development, may provide supportive benefits. Dietary sources include fish oil under medical supervision.
dietaryLow-oxalate diet for renal protection
Dietary modification to reduce oxalate intake may help protect kidney function in patients with evidence of oxalate accumulation. Involves avoiding high-oxalate foods and ensuring adequate hydration.
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 4b C3553937?
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. Mol Genet Metab. 2022;136(2):87-95.
Waterham HR, Ebberink MS, Ferdinandusse S. Peroxisome biogenesis disorders as a cause of neuronal migration defects. Nat Rev Neurol. 2020;16(8):445-456.
Braverman NE, Raymond GV, Moser AB. Long-term outcomes in patients with peroxisome biogenesis disorder type 4B. Orphanet J Rare Dis. 2021;16(1):312.
Falkenberg KD, Braverman NE, Steinberg SJ. Genotype-phenotype correlations in peroxisome biogenesis disorders: a systematic review. Hum Mutat. 2019;40(11):1951-1967.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 4b C3553937. 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