A1 Refereed original research article in a scientific journal
Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency
Authors: Syrjä, Pernilla; Ylenius, Mathilda M. H.; Kråkström, Matilda; Dickens, Alex M.; Rautala, Elina; Huupponen, Anna; Eriksson, Anders; Viitanen, Sanna J.
Publisher: John Wiley & Sons
Publication year: 2025
Journal:: Journal of Veterinary Internal Medicine
Article number: e70223
Volume: 39
Issue: 5
ISSN: 0891-6640
eISSN: 1939-1676
DOI: https://doi.org/10.1111/jvim.70223
Web address : https://doi.org/10.1111/jvim.70223
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/500456544
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability to properly break down and utilize lipids and in the accumulation of especially cholesterol esters in many organs such as the liver, spleen, and bone marrow. This case report describes clinical findings, LAL activity measurement, blood and liver tissue lipidomic changes, as well as pathological findings in two unrelated Field Spaniels with LAL deficiency and CESD.
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Funding information in the publication:
This work was supported by University of Helsinki Fund for Veterinary Medicine/Fund for Research in Canine Health.
