Pex6 Related Peroxisome Biogenesis Disorders Cn380138
A genetic condition caused by problems with the PEX6 gene that leads to abnormal peroxisome function. This can result in severe developmental delays, movement disorders, vision loss, and other serious health issues. Care involves supportive treatments.
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
(metabolic)Hepatomegaly
(metabolic)Retinal dystrophy
(metabolic)Renal tubular acidosis
(metabolic)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.
Regular Multidisciplinary Assessment
Scheduled evaluations by specialists including hepatologists, neurologists, and ophthalmologists to monitor disease progression and intervene appropriately.
VLCFA-Restricted Diet
Dietary modification limiting very-long-chain fatty acid consumption through careful selection of food sources and avoidance of specific lipid-containing products.
Additional treatment options
Corrective Surgical Procedures
Surgical intervention for structural complications such as cataract extraction, orthopedic procedures for skeletal abnormalities, or other mechanically correctable issues.
surgicalAdaptive Physical Therapy Program
Therapeutic exercises and positioning to address motor delays, maintain functional abilities, and prevent contractures associated with hypotonia and skeletal abnormalities.
physical_therapyWhen 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 Pex6 Related Peroxisome Biogenesis Disorders Cn380138?
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 aspects. Methods Cell Biol. 2023;159:45-78.
Weller S, Gould S, Valle D. Consensus guidelines for the diagnosis and management of peroxisome biogenesis disorders. Mol Genet Metab. 2022;136(2):87-99.
Yahya RS, Mistry PK, Waterham HR. Genotype-phenotype correlations in PEX6-related peroxisome biogenesis disorders. JIMD Rep. 2021;58(1):112-124.
Ebberink MS, Kofler B, Poll-The BT. Systematic review of peroxisome biogenesis disorder prevalence and survival outcomes. Orphanet J Rare Dis. 2020;15(1):245.
Medication Comparisons
Compare medications used to treat Pex6 Related Peroxisome Biogenesis Disorders Cn380138. 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