Spontaneous Mucolipidosis in a Cat: An Animal Model of Human I-Cell Disease
| العنوان: | Spontaneous Mucolipidosis in a Cat: An Animal Model of Human I-Cell Disease |
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| المؤلفون: | R. Gitzelmann, Nils U. Bosshard, H J Sommerlade, Max A. Spycher, K von Figura, J. Briner, M Hubler, S. Arnold |
| المصدر: | Veterinary Pathology. 33:1-13 |
| بيانات النشر: | SAGE Publications, 1996. |
| سنة النشر: | 1996 |
| مصطلحات موضوعية: | 0301 basic medicine, Pathology, medicine.medical_specialty, 040301 veterinary sciences, Transferases (Other Substituted Phosphate Groups), Abnormal facial features, Biology, Cat Diseases, Kidney, Bone and Bones, 0403 veterinary science, 03 medical and health sciences, Animal model, Mucolipidoses, Leukocytes, Lysosomal storage disease, medicine, Animals, Gait, Aorta, Glycosaminoglycans, Skin, Uridine Diphosphate N-Acetylglucosamine, CATS, General Veterinary, Mucolipidosis, Retinal Degeneration, 04 agricultural and veterinary sciences, Anatomy, medicine.disease, Sciatic Nerve, 3. Good health, Radiography, Disease Models, Animal, 030104 developmental biology, Liver, Cats, Body Constitution, Female, I-cell disease, Abnormality |
| الوصف: | A 7-month-old female cat was seen for abnormal facial features and abnormality of gait. Facial dysmorphism, large paws in relation to body size, dysostosis multiplex, and poor growth were noted, and mucopolysaccharidosis was suspected. A negative urine test for sulfated glycosaminoglycans and extreme stiffness of skin indicated a mucolipidosis hitherto unknown in animals. Deficiency of UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) activity was demonstrated in leukocytes and cultured fibroblasts, which had the appearance of inclusion cells (I-cells). Activities of a set of lysosomal hydrolases were abnormally low in fibroblasts and excessive in blood plasma. Postmortem morphology revealed lysosomal inclusions predominantly in fibroblasts but also in endothelial cells and chondrocytes, i.e., in cells of mesenchymal origin. Storage lysosomes contained oligosaccharides, mucopolysaccharides, and lipids. Tissues most affected were bones, cartilage, skin, and other connective tissues such as those in heart valves, aortic wall, and vocal cords. Parenchymal cells of liver and kidney were unaffected, as was skeletal muscle. Only a few of the cerebral cortical neurons had lipid inclusions; in sciatic nerve some axons were affected, but other peripheral nerves were normal. There were striking clinical, biochemical, and morphologic similarities between the disorder in this cat and the human I-cell disease. |
| تدمد: | 1544-2217 0300-9858 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::018e8a969515fa6299e575cd61bdda87 https://doi.org/10.1177/030098589603300101 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....018e8a969515fa6299e575cd61bdda87 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15442217 03009858 |
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