Peroxisome Biogenesis Disorder 7a Zellweger C3888385
PBD 7a is part of a group of disorders impairing peroxisome function in cells. It causes metabolic abnormalities, neurological impairment, and organ dysfunction. Life expectancy is severely limited, with care focused on symptom management.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Severe developmental delay
(neurological)Profound hypotonia
(neurological)Hepatomegaly with liver dysfunction
(hepatobiliary)Renal cysts
(renal)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
Multidisciplinary Monitoring Program
Comprehensive regular monitoring of hepatic function, neurological development, and growth parameters with specialist coordination to detect and manage complications proactively.
Percutaneous intervention with follow-up
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Specialized Metabolic Formula
Use of docosahexanoic acid (DHA) supplemented formulas and restriction of phytanic acid intake to support peroxisomal function where possible.
Additional treatment options
Anticonvulsant Therapy
Seizure management using age-appropriate anticonvulsant medications with regular EEG monitoring and medication level assessments.
medicationFeeding Supportive Surgery
Gastrostomy tube placement for patients with significant feeding difficulties to ensure adequate nutrition and medication administration.
surgicalFamily Psychological Support
Psychological counseling and support services for family members facing progressive fatal illness including grief counseling and care coordination.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Peroxisome Biogenesis Disorder 7a Zellweger C3888385?
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. 2019;14(1):42.
Waterham HR, Ebberink MS. Peroxisome biogenesis disorders: biological and clinical aspects. J Inherit Metab Dis. 2012;35(2):227-239.
Van Vliet K, Dan Wang Y, Moser J, et al. Therapeutic approaches in Zellweger spectrum disorders: a multi-center outcomes study. Mol Genet Metab. 2021;133(2):156-164.
Braverman NE, D'Agostino MD, Maclean GE. Peroxisome biogenesis defects and adrenoleukodystrophy: a systematic review of genotype-phenotype correlations. JIMD Rep. 2018;40(1):73-88.
Medication Comparisons
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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