Diagnostik der genetischen Mukopolysaccharidosen bei Hund und Katze

A. C. Sewell

doi:10.1055/s-0038-1622814

Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere, Inhaltsverzeichnis

Tierarztl Prax Ausg K Kleintiere Heimtiere 2009; 37(06): 433-437
DOI: 10.1055/s-0038-1622814

Für Studium und Praxis

Schattauer GmbH

Diagnostik der genetischen Mukopolysaccharidosen bei Hund und Katze

A. C. Sewell

¹Klinik für Kinder- und Jugendmedizin 1 (Direktor: Prof. Dr. med. H. Böhles), Johann-Wolfgang-Goethe-Universität Frankfurt am Main

Literatur
1 Aguirre G, Stramm L, Haskins M. Feline mucopolysaccharidosis VI: general ocular and pigment pathology. Invest Ophthalmol Vis Sci 1983; 24: 991-1007.
2 Civallero G, Michelin K, De Mari J, Viapiana M, Burin M, Coelho JC, Giugliani R. Twelve different enzyme assays on dried blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta 2006; 372: 98-102.
3 DeJong JGN, Wevers RA, Laarakkerrs C, Porthuis BJHM. Dimethylene blue based spectrophotometry of glycosaminoglycans in untreated urine. A rapid screening procedure for mucopolysacccharidoses. Clin Chem 1989; 35: 1472-1477.
4 DeJong JGN, Hasselmann JJF, Landeghem AAJ, Vader AL, Wevers RA. The spot test is not a reliable screening procedure for mucopolysaccharidoses. Clin Chem 1991; 37: 572-575.
5 Ellinwood NM, Wang P, Skeen T, Sharp NJ, Cesta M, Decker S, Edwards NJ, Bublot I, Thompson JN, Bush W, Hardam E, Haskins ME, Giger U. A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. J Inher Metab Dis 2003; 26: 489-504.
6 Fischer A, Carmichael KP, Munnell JF, Jhabvala P, Thompson JW, Matalon R, Jezyk PF, Wang P, Giger U. Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo). Pediatr Res 1998; 44: 74-82.
7 Gitzelmann R, Bosshard N, Superti-Furga A, Spycher MA, Brier J, Wiesmann U, Lutz H, Litschi B. Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency. Vet Pathol 1994; 31: 435-443.
8 Haskins ME, Jezyk PF, Desnick RJ, McDonough SK, Patterson DF. Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pe -diatr Res 1979; 13: 1294-1297.
9 Haskins ME. Bingel SA, Northington JW, Newton CD, Sande RD, Jezyk PF, Patterson DF. Spinal cord compression and hindlimb paresis in cats with mu-copolysaccharidosis VI. J Am Vet Med Assoc 1983; 182: 983-985.
10 Haskins ME, Desnick RJ, DiFerrante N, Jezyk PF, Patterson DF. Beta-glucuronidase deficiency in a dog: a model of human mucopolysacccharidosis VII. Pediatr Res 1984; 18: 980-984.
11 Haskins ME, Otis EJ, Hayden JE, Jezyk PF, Stramm L. Hepatic storage of glycosaminoglycans in feline and canine models of mucopolysacccharidosis I, VI and VII. Vet Pathol 1992; 29: 112-119.
12 Haskins ME, Casal M, Ellinwood NM, Melniczek J, Mazrier H, Giger U. Animal models for mucopolysaccharidoses and their clinical relevance. Acta Paediatr Suppl 2002; 439: 88-97.
13 Haskins ME. Animal models for mucopolysaccharidosis and their clinical relevance. Acta Paediatr 2007; 96: 56-62.
14 Jezyk PF, Haskins ME, Patterson DF, Mellman WJ, Greenstein M. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science 1977; 198: 834-836.
15 Kircher S, Bajbouj M, Miesbach E, Beck M. Mukopolysaccharidosen – Ein Leitfaden für Ärzte und Eltern, 2. Aufl. Bremen: Uni-med; 2008
16 Konde LJ, Thrall MA, Gasper P, Dial SM, McBiles K, Colgan S, Haskins ME. Radiographically visualized changes associated with mucopolysaccharidosis VI in cats. Vet Radiol 1987; 28: 223-228.
17 Menon KP, Tieu PT, Neufeld EF. Architecture of the canine IDUA gene and mutation underlying canine mucopolysacccharidosis I. Genomics 1992; 12: 763-768.
18 Mollard RJ, Telegen P, Haskins ME, Aguirre G. Corneal epithelium in mucopolysaccharide storage disorders. Morphologic studies in animal models. Cornea 1996; 15: 25-34.
19 Neer TM, Dial SM, Pechman R, Wang P, Giger U. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) in a miniature pinscher. J Vet Intern Med 1992; 6: 124
20 Norrdin RW, Moffat KS, Thrall MA, Gasper PW. Characterisation of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation. Bone 1993; 14: 361-367.
21 Ray J, Haskins ME, Ray K. Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis VII locus in dogs. Am J Vet Res 1998; 59: 1092-1095.
22 Sammarco C, Weil M, Just C, Weimelt S, Hasson C, O’Malley T, Evans SM, Wang P, Casal ML, Wolfe J, Haskins ME. Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII. Bone Marrow Transplant 2000; 25: 1289-1297.
23 Sargan DR. Inherited metabolic disease in companion animals: prospects for their diagnosis and elimination in the next decade. Vet J 2007; 174: 223-224.
24 Schull RM, Munger RJ, Spellacy E, Hall CW, Constantinopoulos G, Neufeld EF. Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol 1982; 109: 244-248.
25 Sewell AC. Urinary screening for disorders of heteroglycan metabolism. Klin Wochenschr 1988; 66: 48-53.
26 Sewell AC, Haskins ME, Giger U. Inherited metabolic disease in companion animals: searching for natures mistakes. Vet J 2007; 174: 252-259.
27 Sewell AC, Kornberg M, Haskins ME. Dried blood spots for the enzymatic diagnosis of mucopolysaccharide storage disease in companion animals. J Small Animal Pract 2009. (submitted)
28 Sheridan O, Wortman J, Harvey C, Hayden J, Haskins ME. Craniofacial abnormalities in animal models of mucopolysaccharidosis I, VI and VII. J Craniofac Genet Dev Biol 1994; 14: 7-15.
29 Simonaro CM, Haskins ME, Schuchman EA. Articular chondrocytes from animals with a dermatan sulphate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccha -ridoses. Lab Invest 2001; 81: 1319-1328.
30 Skelly BJ, Franklin RJM. Recognition and diagnosis of lysosomal storage diseases in the cat and dog. J Vet Intern Med 2002; 16: 133-141.
31 Wilkerson MJ, Lewis DC, Marks SL, Prieur DJ. Clinical and morphologic features of mucopolysaccharidosis type II in a dog: naturally occurring model of Hunter syndrome. Vet Pathol 1998; 35: 230-233.
32 Yogalingam G, Litjens T, Bielecki J, Crawley AC, Muller V, Anson DS, Hop-wood JJ. Feline mucopolysaccharidosis type VI. Characterisation of recombinant N-acetylgalactosamine-4-sulfatase and identification of a mutation causing the disease. J Biol Chem 1996; 271: 27259-27265.