Peroxisome Biogenesis Disorder Due To Pex5 Defect In The Pex7 Binding Domain Cn305481
A severe genetic disorder caused by a defect in a specific part of the PEX5 gene that interacts with another protein. It disrupts peroxisome function, causing neurological problems, liver disease, and severe developmental delays. Care is supportive and focuses on managing 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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Failure to thrive
(metabolic)Retinal dystrophy
(neurological)Rhizomelic limb shortening
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized Genetic and Biochemical Tracking
Ongoing monitoring of disease-specific biomarkers and genetic parameters to assess PEX7 binding domain function and guide clinical management decisions.
Activity Modification and Energy Conservation
Lifestyle adaptations that balance activity with rest, accommodate physical limitations, and optimize quality of life within individual capabilities.
Additional treatment options
Diagnostic and Therapeutic Procedures
Performance of necessary diagnostic procedures such as liver biopsies, metabolic testing, and therapeutic interventions as clinically indicated.
procedureFunctional Mobility and Independence Therapy
Physical therapy focusing on maintaining existing function, preventing contractures, and maximizing mobility through targeted exercises and assistive device training.
physical_therapySupportive Care Coordination
Integration of complementary supportive therapies including music therapy, art therapy, and other modalities to enhance quality of life and provide non-pharmacological symptom support.
complementaryWhen 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 In The Pex7 Binding Domain Cn305481?
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: biological review and therapeutic approaches. Mol Genet Metab. 2020.
Poll-The BT, Gootjes J, Wanders RJ. Clinical management guidelines for peroxisome biogenesis disorders. Orphanet J Rare Dis. 2022.
Waterham HR, Ebberink MS, Steinberg SJ. PEX5 and PEX7 defects in the Pex7 binding domain: clinical phenotypes and molecular characterization. J Inherit Metab Dis. 2021.
Braverman NE, D'Agostino MD, MacDonald ML. Long-term outcomes in peroxisome biogenesis disorders: a systematic review. Clin Genet. 2023.
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.
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