Literature DB >> 11055883

Mucopolysaccharidosis VII in a cat.

P C Schultheiss1, S A Gardner, J M Owens, D A Wenger, M A Thrall.   

Abstract

Mucopolysaccharidosis VII was diagnosed in a domestic shorthair cat from California. The cat was small and had multiple abnormalities, including a small body disproportionate to the size of the skull, angular deformities of the ribs, abnormally short forelimbs, luxating patellas, generalized epiphyseal dysplasia involving the vertebrae and long bones, cuboidal vertebrae, pectus excavatum, subluxation of both hips, osteosclerosis of the tentorium cerebelli and left petrous temporal bone, tracheal hypoplasia, and corneal clouding. Beta-glucuronidase activity was markedly decreased in peripheral blood leukocytes. The cat died at 21 months of age, and a complete necropsy was performed. Tissues were examined by light and transmission electron microscopy. Large clear, round vacuoles representing distended lysosomes were present in many epithelial and connective tissue cells, including fibrocytes, chondrocytes, smooth muscle cells, hepatocytes, astrocytes, and macrophages.

Entities:  

Mesh:

Year:  2000        PMID: 11055883     DOI: 10.1354/vp.37-5-502

Source DB:  PubMed          Journal:  Vet Pathol        ISSN: 0300-9858            Impact factor:   2.221


  10 in total

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Authors:  Susan Wilson; Dieter Brömme
Journal:  J Pediatr Rehabil Med       Date:  2010

Review 2.  Inherited metabolic disease in companion animals: searching for nature's mistakes.

Authors:  Adrian C Sewell; Mark E Haskins; Urs Giger
Journal:  Vet J       Date:  2006-11-07       Impact factor: 2.688

Review 3.  Gene therapy for lysosomal storage diseases (LSDs) in large animal models.

Authors:  Mark Haskins
Journal:  ILAR J       Date:  2009

4.  Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats.

Authors:  Adrian C Sewell; Mark E Haskins; Urs Giger
Journal:  Vet Clin Pathol       Date:  2012-11-02       Impact factor: 1.180

Review 5.  Failures of Endochondral Ossification in the Mucopolysaccharidoses.

Authors:  Zhirui Jiang; Sharon Byers; Margret L Casal; Lachlan J Smith
Journal:  Curr Osteoporos Rep       Date:  2020-10-16       Impact factor: 5.096

6.  A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.

Authors:  Marjo K Hytönen; Meharji Arumilli; Anu K Lappalainen; Heli Kallio; Marjatta Snellman; Kirsi Sainio; Hannes Lohi
Journal:  PLoS One       Date:  2012-07-05       Impact factor: 3.240

7.  Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene.

Authors:  P Wang; J Sorenson; S Strickland; C Mingus; M E Haskins; U Giger
Journal:  J Vet Intern Med       Date:  2015-06-25       Impact factor: 3.333

8.  The beta-glucuronidase intracisternal A particle insertion model results in similar overall MPSVII phenotype as the single base deletion model when on the same C57BL/6J mouse background.

Authors:  Sean C Devanney; Joseph M Gibney; Colleen G Le Prell; Thomas J Wronski; J I Aguirre; Issam Mcdoom; Coy D Heldermon
Journal:  Mol Genet Metab Rep       Date:  2021-02-06

9.  Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats.

Authors:  Yoshihiko Yu; Daisuke Hasegawa; Yuji Hamamoto; Shunta Mizoguchi; Toshiki Fujimori; Yoshiaki Kubo; Md Shafiqul Islam; Osamu Yamato
Journal:  JFMS Open Rep       Date:  2022-02-14

Review 10.  Animal models for target diseases in gene therapy--using DNA and siRNA delivery strategies.

Authors:  Ian S Blagbrough; Chiara Zara
Journal:  Pharm Res       Date:  2008-10-08       Impact factor: 4.200

  10 in total

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