Peroxisome Biogenesis Disorder 13a Zellweger C3554004
Part of a group of conditions affecting how peroxisomes work in cells. This disorder causes accumulation of very long chain fatty acids, leading to progressive damage to multiple organs. Care is supportive, and the condition is life-limiting.
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.
Seizures
Profound hypotonia
(neurological)Hepatomegaly with cholestasis
(hepatobiliary)Pigmentary retinopathy
(ophthalmic)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
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Serial developmental and neurological assessments
Regular monitoring of developmental milestones, neurological function, and sensory capabilities to guide supportive interventions and care planning.
Tailored nutritional intervention
Nutrition assessment and management addressing specific metabolic needs, potential malabsorption issues, and maintaining appropriate hydration status.
Additional treatment options
Surgical correction of craniofacial and skeletal abnormalities
Corrective surgical procedures for significant craniofacial anomalies, skeletal deformities, or other structural abnormalities when medically indicated.
surgicalSupportive pharmaceutical care
Pharmacological interventions for seizure management, infection prevention, and treatment of intercurrent illnesses common in this patient population.
medicationSupportive complementary therapies
Incorporation of gentle complementary approaches such as massage therapy and music therapy to enhance comfort and quality of life.
complementaryWhen 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 13a Zellweger C3554004?
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, Raymond GV, Braverman NE, Moser AB. Clinical practice guidelines for peroxisome biogenesis disorders. Genet Med. 2020;22(8):1423-1435.
Waterham HR, Ebberink MS, Steinberg SJ. Peroxisome biogenesis and human peroxisome biogenesis disorders. Ann Neurol. 2018;84(3):341-356.
Poll-The BT, Gootjes J, Wanders RJA. Longitudinal analysis of dietary and pharmacological interventions in peroxisome biogenesis disorders. Mol Genet Metab. 2022;136(2):189-201.
Falkenberg KD, Steinberg CE, Klouwer FCC. Biochemical diagnosis of peroxisomal disorders. JIMD Rep. 2021;59(1):67-84.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 13a Zellweger C3554004. 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