Peroxisome Biogenesis Disorder Complementation Group 7 C1864399
A genetic disorder affecting peroxisomes, structures in cells that break down certain substances. This can cause severe developmental delays, movement problems, and multiple organ complications. Care is supportive.
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
Severe intellectual disability
(neurologic)Growth failure
(metabolic)Corneal clouding
(ophthalmologic)Peripheral neuropathy
(neurologic)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 Function Surveillance
Regular monitoring of liver function tests, bilirubin levels, and hepatic imaging to detect and manage liver dysfunction, which is common in peroxisome biogenesis disorders.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
VLCFA Restriction Diet
Implementation of a diet low in very long chain fatty acids with possible supplementation of Lorenzo's oil or similar bile acid conjugates under metabolic specialist guidance.
dietaryRespiratory Support Therapy
Supportive respiratory care including chest physiotherapy, humidification, and supplemental oxygen as needed to manage recurrent respiratory infections common in the disorder.
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 Complementation Group 7 C1864399?
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, et al. Clinical and diagnostic guidelines for peroxisome biogenesis disorders. Mol Genet Metab. 2020.
Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2012.
Moser AB, et al. Clinical and genetic characterization of peroxisome biogenesis disorder complementation group 7. Am J Med Genet A. 2015.
Fujiki Y, et al. Peroxisome biogenesis disorders: advances in understanding PEX gene defects. Prog Lipid Res. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy