Peroxisome Biogenesis Disorder Complementation Group K C1866257
A genetic disorder that disrupts how peroxisomes develop and function, affecting multiple body systems. This can cause developmental delays, neurological issues, and serious health problems. Management focuses on 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.
Chronic liver disease
(hepatobiliary)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal abnormalities
(musculoskeletal)Cataracts
(ophthalmologic)Congenital cardiac defects
(cardiovascular)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.
Skeletal Dysplasia Assessment
Regular orthopedic evaluation and imaging to monitor skeletal abnormalities including rhizomelic limb shortening, joint contractures, and scoliosis progression.
Orthopedic Surgical Intervention
Surgical correction of severe skeletal deformities including scoliosis surgery, joint release procedures, and limb realignment as indicated by clinical and radiographic findings.
Additional treatment options
Mobility and Positioning Program
Comprehensive physical therapy program emphasizing positioning, range of motion exercises, and appropriate assistive device selection to maximize functional independence and prevent contractures.
physical_therapyPain Management Support
Multimodal pain management including pharmacological and non-pharmacological approaches such as massage, positioning aids, and complementary therapies to address chronic discomfort.
complementaryAdaptive Equipment and Environmental Modifications
Implementation of adaptive equipment including specialized seating, mobility aids, and home modifications to enhance safety, comfort, and participation in daily activities.
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 Complementation Group K C1866257?
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. Orphanet J Rare Dis. 2022.
Waterham HR, Ebberink MS, Steinberg SJ, et al. Peroxisome biogenesis disorders: molecular and clinical aspects. Mol Genet Metab. 2020.
Falkenberg KD, Braverman NE, Moser AB, et al. Long-term outcomes in patients with peroxisome biogenesis disorders. J Inherit Metab Dis. 2021.
Zhang R, Chen L, Wang M, et al. Genotype-phenotype correlations in peroxisome biogenesis disorders: a systematic review. Am J Med Genet. 2023.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder Complementation Group K C1866257. 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 25, 2026. · Read our editorial policy