Peroxisome Biogenesis Disorder 14b C3554055
Part of a group of disorders where peroxisomes do not form properly, disrupting cellular function. This typically causes severe developmental challenges and problems with multiple organ systems. Management includes supportive care tailored to each patient's needs.
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.
Warning signs - seek immediate care
Visual impairment
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(neurological)Craniofacial dysmorphism
(musculoskeletal)Hepatomegaly
(gastrointestinal)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
Comprehensive multidisciplinary monitoring
Regular monitoring by specialists including ophthalmology, audiology, hepatology, and developmental pediatrics to track disease progression and intervene early. Routine laboratory tests assess liver function and very-long-chain fatty acid levels.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized fatty acid restriction diet
Dietary modification restricting very-long-chain fatty acids (VLCFAs) may help reduce accumulation and potentially slow disease progression. Nutritional counseling with a metabolic dietitian is essential to ensure adequate growth and development.
Additional treatment options
Early intervention physical therapy
Structured physical therapy program focusing on improving muscle tone, motor function, and preventing contractures. Therapy is adapted as abilities change over time.
physical_therapySurgical correction of skeletal abnormalities
Orthopedic intervention for significant skeletal deformities such as clubfoot or scoliosis that impair mobility or cause pain. Surgery may improve quality of life and functional capacity.
surgicalFamily counseling and support services
Psychological support for families facing the challenges of caring for a child with a severe genetic disorder. Includes grief counseling, caregiver support, and connection to community resources.
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.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 14b C3554055. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy