Zellweger syndrome
Enzyme or protein defect
Peroxisome biogenesis (peroxin) proteins
Accumulates or becomes deficient
Very-long-chain fatty acids
Key features
Hypotonia, seizures, craniofacial dysmorphism, hepatomegaly, early death
Management
Supportive
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Parental Goals of Care for Children With Rare Diseases: A Content Analysis of Pediatric Advance Care Planning Conversations.
Younge T, Moore H, Thompkins JD, Lyon ME. · 2025-07-02
unreviewed -
2
Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review.
Wang Z, Chen X, Cui Z, Qi X, Gu L, Liu Y, Zhao W, Jiang Y. · 2026-07-01
open access unreviewed -
3
Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation.
Villarreal EG, Chiang J, Propst EJ, Wolter NE. · 2026-02-24
open access unreviewed -
4
Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome.
Leinheiser AK, Nguyen TT, Henry KM, Rosales M, Van Otterloo E, Grueter CE. · 2025-09-08
unreviewed -
5
Peroxisome Carrier SLC25A17: Potential Biomarker for Peroxisome Dysfunction and Human Disease
· 2026-06-01
open access unreviewed -
6
Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint
Seneor D, Barile J, Mendes P, Orsini M, da Silva E, Farias I, Serrano P, Pinto W, Oliveira A, de Souza P. · 2026-06-01
open access unreviewed -
7
The EXTra-uterine Environment for Neonatal Development (EXTEND) - future treatment for prematurity and potentially other congenital disease.
Wawrla-Zepf J, Flake AW. · 2026-06-07
unreviewed -
8
A brief history of the human liver peroxisome.
De Craemer D, Van den Branden C, Roels F. · 2026-06-04
open access unreviewed -
9
Peroxisome-derived ether lipids regulate lysosomal exocytosis.
Chen L, Henn D, Dong Z, Liang J, Wielenga A, Vale G, Burugula B, Zou J, Krishnan Y, McDonald JG, Kitzman J, L… · 2026-05-02
cited 2× open access unreviewed -
10
Loss of peroxisomal membrane proteins PEX13 and PEX14 disrupts fatty acid oxidation and drives lipid imbalance.
Vinoy N, Huang G, Wallace D, Subramaniam VN. · 2026-06-01
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.