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Updated: Jun 26, 2026
05:57
Peroxisome Staining in Mammalian Cells Using Peroxisome-Specific Probes
Published on: December 19, 2025
Peroxisomal disorders - incidences in Sweden
Maria Blomqvist1, Karin Naess2, Jan-Eric Månsson3
1Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Region Västra Götaland, Sweden; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Summary
This study calculated the incidence of peroxisomal disorders in Sweden. The overall incidence was 1:29,100, with X-linked adrenoleukodystrophy (X-ALD) being the most common, highlighting the need for accurate rare disease surveillance.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Accurate incidence data for rare disorders like peroxisomal disorders are vital for healthcare planning and understanding disease burden.
- X-linked adrenoleukodystrophy (X-ALD) incidence is particularly important for considering its inclusion in national neonatal screening programs.
- Peroxisomal disorders encompass a range of conditions affecting metabolism and development.
Purpose of the Study:
- To determine the incidence of peroxisomal disorders in Sweden from 1985-2024.
- To specifically assess the incidence of X-linked adrenoleukodystrophy (X-ALD) for neonatal screening evaluation.
- To compare incidence rates with other estimates and explore discrepancies.
Main Methods:
- Inclusion of all patients diagnosed at the two Swedish laboratories analyzing very long-chain fatty acids (VLCFA), phytanic, pristanic, L-pipecolic acid, and plasmalogens.
- Calculation of incidence rates based on diagnostic data from 1985-2024, with a focus on the period 2005-2024.
- Exclusion of female carriers of X-ALD in the overall cohort incidence calculation.
Main Results:
- The overall incidence for the cohort (2005-2024) was 1:29,100 (excluding female X-ALD carriers).
- Hemizygous X-linked adrenoleukodystrophy (X-ALD) had the highest incidence at 1:65,100.
- Peroxisomal biogenesis disorders (PBDs; Zellweger spectrum disorders) occurred at an incidence of 1:73,800.
Conclusions:
- Incidence rates for clinically detected peroxisomal disorders align with previous estimates, but differ from neonatal screening data for X-ALD.
- The higher incidence of X-ALD in neonatal screening may be linked to the identification of genetic variants of uncertain significance.
- Increased awareness and improved supportive care have led to later diagnoses and longer survival times for PBDs.
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