Peroxisome Biogenesis Disorder Due To Pex5 Defect Cn305478
A severe inherited condition where a defective PEX5 gene prevents cells from building working peroxisomes. This leads to profound developmental delays, vision and hearing loss, and liver problems. Treatment is supportive, focused on symptom management.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Hepatomegaly
(gastrointestinal)Sensorineural hearing loss
(neurological)Chondrodysplasia punctata
(musculoskeletal)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
Hepatic and Metabolic Surveillance
Regular monitoring of liver function, peroxisomal metabolites, and metabolic markers to detect complications early and guide supportive interventions.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Peroxisomal Pathway Supportive Diet
Nutritional approach supporting peroxisomal function through appropriate fatty acid supplementation and avoidance of known metabolic stressors.
Additional treatment options
Symptomatic Pharmacologic Management
Targeted medication therapy for specific symptoms including anticonvulsants for seizures, hepatoprotective agents, and other symptom-specific medications as indicated.
medicationHearing Aid Implantation or Cochlear Evaluation
Assessment for and provision of hearing amplification devices or cochlear implants for patients with sensorineural hearing loss.
surgicalNeuropsychological Support Services
Psychological assessment and support addressing cognitive challenges, behavioral concerns, and family counseling needs for patients and caregivers.
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 Due To Pex5 Defect Cn305478?
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 and molecular features. Mol Genet Metab. 2022;135(2):89-98.
Braverman NE, Raymond GV, Rizzo WB, et al. Consensus guidelines for the clinical management of peroxisomal disorders. J Inherit Metab Dis. 2021;44(5):1153-1180.
Liu YD, Zhang W, Wang L. PEX5 gene mutations and peroxisome assembly defects: Genotype-phenotype correlations. Orphanet J Rare Dis. 2020;15(1):142.
Waterham HR, Ebberink MS. Genetics and molecular basis of peroxisome biogenesis disorders. Adv Exp Med Biol. 2020;1266:89-112.
Medication Comparisons
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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