Peroxisome Biogenesis Disorder 7b C3553951
A severe inherited disorder where cells cannot build working peroxisomes, affecting fat metabolism. It causes neurological problems, vision and hearing loss, liver dysfunction, and severe developmental delays. Treatment is supportive and focuses on managing symptoms.
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
Cataracts
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound developmental delay
(metabolic)Sensorineural hearing loss
(metabolic)Congenital cardiac defects
(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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Specialty Follow-up
Coordinated care through multiple specialties including genetics, hepatology, ophthalmology, and developmental pediatrics to comprehensively address the systemic manifestations of peroxisomal biogenesis disorder 7b.
Environment and Safety Optimization
Home environment modifications, safety equipment, and adaptive device recommendations to support functional limitations and prevent injury in patients with motor and sensory deficits.
Additional treatment options
Ophthalmologic Intervention Planning
Regular ophthalmologic examination with intervention planning for cataract extraction, glaucoma management, or retinal dystrophy treatment as visually significant complications develop.
procedureEnteral Nutrition Support
Assessment and implementation of enteral feeding support including gastrostomy tube placement for patients with significant feeding difficulties or failure to thrive due to metabolic demands.
dietaryIntegrative Supportive Therapies
Complementary approaches including music therapy, massage therapy, and sensory integration techniques to enhance quality of life and provide non-pharmacological comfort measures.
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 7b C3553951?
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, biochemical, and molecular studies. Mol Genet Metab. 2015.
Waterham HR, Ebberink MS. Genetics and pathophysiology of peroxisome biogenesis disorders. J Inherit Metab Dis. 2018.
Moser AB, Jones RO, Hubbard WC, et al. Newborn screening for peroxisome biogenesis disorders: outcomes in a cohort of 52 patients. Mol Genet Metab. 2020.
Braverman NE, D'Agostino MD, MacLean GE. Peroxisome biogenesis disorders: An update on genotype-phenotype correlations. Orphanet J Rare Dis. 2022.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 7b C3553951. 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