Peer-reviewed veterinary case report
Recognizing lysosomal storage diseases in dogs and cats
By Skelly, Barbara J & Franklin, Robin J M·Published in Journal of veterinary internal medicine·2002·Department of Clinical Veterinary Medicine, United Kingdom·View original on PubMed →
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Original publication title: Recognition and diagnosis of lysosomal storage diseases in the cat and dog.
Plain-English summary
Lysosomal storage diseases are uncommon genetic disorders in cats and dogs that happen when certain enzymes in their cells are missing or not working properly. This lack of enzymes causes a buildup of materials in the cells, which can lead to various health problems. Because these diseases can show many different signs, they can be hard to identify and diagnose. The review discusses the symptoms of these diseases and explains how veterinarians can confirm a diagnosis.
Abstract
Lysosomal storage diseases are rare, inherited disorders caused by the deficiency of 1 or more enzymes within the lysosomes of cells or by the deficiency of an activating protein or cofactor necessary for enzyme activity. The enzyme deficiency leads to a catabolic blockade and subsequent accumulation of storage material, and this in turn leads, albeit indirectly, to a wide array of clinical signs. Many features of storage diseases make them difficult to recognize and diagnose. In this review, we summarize the clinical features of these diseases and outline the steps required to confirm a diagnosis.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/11899921/