Clinical Biochemistry of Domestic Animals (Sixth Edition) - UMK ...

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Chapter | 24 Lysosomal Storage Diseases
TABLE 24-1 Naturally Occurring Lysosomal Storage Diseases in Animals
Disease Deficient enzyme Species & selected References
Ceroid lipofuscinosis
Cathepsin D
CLN2 (TTP1)
CLN5
CLN6
CLN8
Undefined
American bulldogs (Awano et al., 2006b), sheep (Tyynela et al., 2000)
Dachshund (Awano et al., 2006a)
Border collie (Melville et al., 2005)
Mice (Wheeler et al., 2002), Merino and Hampshire sheep (Broom et al., 1998; Cook et al.,
2002)
English setter dog (Katz et al., 2005)
18 breeds of dog including Labrador retriever (Rossmeisl et al., 2003), cocker spaniel
(Minatel et al., 2000), miniature schnauzer (Jolly et al., 1997). Polish Owczareed Nizinny
(Narfstrom and Wrigstad, 1995), Tibetan terrier (Riis et al., 1992), Australian cattle
(Sisk et al., 1990), dalmatian (Goebel et al., 1988), blue heeler (Cho et al., 1986), Saluki
(Appleby et al., 1982); Holstein cattle (Hafner et al., 2005); domestic cat (Weissenbock
and Rossel, 1997)
Fucosidosis Alpha-fucosidase English springer spaniel dog (Friend et al., 1985; Healy et al., 1984; Kelly et al., 1983;
Skelly et al., 1996, 1999; Smith et al., 1996)
Galactosylceramide lipidosis
(globoid cell leukodystrophy;
Krabbe disease)
Glucocerebrosidosis
(Gaucher disease)
Glycogen storage
disease II (Pompe
disease)
Galactosylceramidase
(galactocerebroside
beta-galactosidase)
Acid beta-glucosidase
(Glucocerebrosidase)
Cairn terrier dog (Austin et al., 1968; Fankhauser et al., 1963; Fletcher and Kurtz, 1972;
Fletcher et al., 1966, 1971; Hirth and Nielsen, 1967; Howell and Palmer, 1971; McGrath
et al., 1968; Suzuki et al., 1970, 1974)
West Highland white terrier dog (Fankhauser et al., 1963; Fletcher and Kurtz, 1972;
Fletcher et al., 1971; Jortner and Jonas, 1968)
Dorset sheep (Pritchard et al., 1980)
Twitcher mouse (Duchen et al., 1980; Kobayashi et al., 1980)
Domestic shorthair cat (Johnson, 1970)
Miniature poodle dog (Suzuki et al., 1974)
Beagle dog (Johnson et al., 1975)
Blue tick hound dog (Boysen et al., 1974)
Irish setter dog (Wenger et al., 2001)
Rhesus monkey (Luzi et al., 1997)
Sydney silky terrier dog (Farrow et al., 1982; Hartley and Blakemore, 1973; Van De Water
et al., 1979)
Sheep (Laws and Saal, 1968)
Pig (Sandison and Anderson, 1970)
Acid alpha-glucosidase Lapland dog (Mostafa, 1970; Walvoort et al., 1982, 1984, 1985)
Domestic shorthair cat (Sandstrom et al., 1969)
Corriedale sheep (Manktelow and Hartley, 1975)
Shorthorn cattle (Howell et al., 1981; Jolly et al., 1977)
Brahman cattle (O’Sullivan et al., 1981; Wisselaar et al., 1993)
Japanese quail (Fujita et al., 1991; Higuchi et al., 1987; Nunoya et al., 1983;
Suhara et al., 1989)
G M1 Gangliosidosis Beta-galactosidase Siamese cat (Baker et al., 1971; Farrell et al., 1973; Handa and Yamakawa, 1971; Holmes
and O’Brien, 1978a, 1978b)
Domestic shorthair cat (Blakemore, 1972; Purpura and Baker, 1976, 1978; Purpura et al.,
1978)
Korat cat (Baker et al., 1976; Martin et al., 2004)
Beagle mix dog (Alroy et al., 1985; Read et al., 1976; Rittmann et al., 1980; Rodriguez et al.,
1982)
Springer spaniel dog (Alroy et al., 1985, 1992; Kaye et al., 1992)
Portuguese water dog (Alroy et al., 1992; Saunders et al., 1988; Shell et al., 1989)
Frisian cattle (Donnelly et al., 1973a, 1973b)
Suffolk sheep (Murnane et al., 1991a, 1991b, 1994)
Sheep (Ahern-Rindell et al., 1988a, 1988b, 1989)
G M2 gangliosidosis
(Tay-Sachs disease)
G M2 gangliosidosis
(Sandhoff disease)
Beta-hexosaminidase A
Beta-hexosaminidase A
and B
American flamingo (Kolodny et al., 2006)
Domestic cat (Cork et al., 1977, 1978; Walkley et al., 1990)
Korat cat (Muldoon et al., 1994; Neuwelt et al., 1985)
Japanese spaniel dog (Cummings et al., 1985; Ishikawa et al., 1987)
Yorkshire pig (Kosanke et al., 1978, 1979; Pierce et al., 1976; Read and Bridges, 1968)
German short-haired pointer dog (Bernheimer and Karbe, 1970; Gambetti et al., 1970;
Karbe, 1973; Karbe and Schiefer, 1967; McGrath et al., 1968; Singer and Cork, 1989)
Muntjak deer (Fox et al., 1999)
(Continued)