title: Recognition and diagnosis of lysosomal storage diseases in the cat and dog.
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.
authors.affiliation: Department of Clinical Veterinary Medicine, University of Cambridge, UK. bjs1000@cam.ac.uk
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Skelly
authors.forename: Robin J M
authors.initials: RJ
authors.lastname: Franklin
mesh_terms: D000818:Animals; D001706:Biopsy / Q000662:veterinary; D002371:Cat Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002415:Cats; D004283:Dog Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004285:Dogs; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D008247:Lysosomes / Q000201:enzymology