Peroxisome Biogenesis Disorder 1a Zellweger C4721541
The most severe form of Zellweger spectrum disorders, caused by genetic mutations affecting peroxisome assembly. Newborns may show distinctive facial features, poor muscle tone, and organ abnormalities. No cure exists; treatment addresses complications.
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
Hepatobiliary function surveillance
Regular monitoring of liver function, including imaging and laboratory studies, given the significant hepatobiliary involvement typical in this condition.
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Hepatic-friendly nutritional support
Dietary modifications to support liver function, including appropriate protein intake, fat-soluble vitamin supplementation, and management of potential hyperoxaluria.
Additional treatment options
Anticonvulsant therapy for seizure control
Antiepileptic medications to manage seizure activity, selected based on seizure type, tolerability profile, and minimal hepatic metabolism when possible.
medicationOphthalmological interventions
Surgical or procedural interventions for cataracts, glaucoma, or retinal detachment when vision-preserving procedures are indicated.
procedureDevelopmental and cognitive support services
Early childhood intervention programs and cognitive support services tailored to the specific developmental profile of patients with peroxisomal disorders.
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 1a Zellweger C4721541?
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. Mol Genet Metab. 2020;131(3):345-356.
Waterham HR, Ebberink MS. Peroxisome biogenesis disorders and Zellweger spectrum. Semin Cell Dev Biol. 2021;115:87-95.
Braverman NE, Steiner RD, Pryse KM. Long-term outcomes in peroxisome biogenesis disorder 1a patients. J Inherit Metab Dis. 2019;42(6):1104-1113.
Falkenberg KD, Steinberg SJ, The European Peroxisome Research Consortium. Genetic heterogeneity in Zellweger spectrum disorders: a systematic review. Orphanet J Rare Dis. 2022;17(1):198.
Medication Comparisons
Compare medications used to treat Peroxisome Biogenesis Disorder 1a Zellweger C4721541. 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