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

II. Lysosomal Storage Diseases (LSDs)
735
TABLE 24-1 (Continued)
Mucolipidosis II
(I-cell disease)
N-acetylglucosamine-
1-phosphotransferase
Domestic shorthair cat (Bosshard et al., 1996; Giger et al., 2006;
Hubler et al., 1996)
Alpha-mannosidosis Alpha-mannosidase Persian cat (Burditt et al., 1980; Castagnaro, 1990; Cummings et al., 1988; Jezyk et al.,
1986; Maenhout et al., 1988; Raghavan et al., 1988; Warren et al., 1986)
Angus and Murray gray cattle (Hocking et al., 1972; Jolly, 1971, 1974, 1975, 1978; Jolly
et al., 1973, 1974; Phillips et al., 1974)
Galloway cattle (Embury and Jerrett, 1985)
Guinea pig (Crawley et al., 1999)
Beta-mannosidosis Beta-mannosidase Anglo-Nubian goat (Jones et al., 1983; Jones and Dawson, 1981; Kumar et al., 1986;
Lovell and Jones, 1983)
Saler cattle (Abbitt et al., 1991; Bryan et al., 1993; Healy et al., 1992; Patterson et al., 1991)
Mucopolysaccharidosis I
(Hurler, Scheie, and
Hurler/Scheie
syndromes)
Mucopolysaccharidosis II
(Hunter Syndrome)
Mucopolysaccharidosis III
A (Sanfilippo A syndrome)
Mucopolysaccharidosis III
B (Sanfilippo B syndrome)
Mucopolysaccharidosis III D
(Sanfilippo D syndrome)
Mucopolysaccharidosis
VI (Maroteaux-Lamy
syndrome)
Mucopolysaccharidosis
VII (Sly disease)
Sphingomyelinosis A and
B (Niemann-Pick A and B
diseases)
Sphingomyelinosis C
(Niemann-Pick C disease)
Alpha-L-iduronidase Domestic shorthair cat (Abbitt et al., 1991; Bryan et al., 1993; Haskins et al., 1979a, 1979b;
Haskins and McGrath, 1983; Healy et al., 1992; Patterson et al., 1991)
Plott hound dog (Menon et al., 1992; Shull and Hastings, 1985; Shull et al., 1982, 1984;
Spellacy et al., 1983; Stoltzfus et al., 1992)
Rottweiler dog (Giger, personal communication)
Iduronate sulfatase Labrador retriever dog (Prieur et al., 1995)
Heparan N-sulfatase Wirehaired dachshund dog (Aronovich et al., 2001; Fischer et al., 1998)
New Zealand huntaway dog (Jolly et al., 2000; Yogalingam et al., 2002)
Mouse (Bhaumik et al., 1999)
Alpha-N-acetylglucosaminidase
N-acetylglucosamine
6-sulfatase
N-acetylglucosamine
4-sulfatase
(arylsulfatase B)
Beta-glucuronidase
Acid sphingomyelinase
Skipperke dog (Ellinwood et al., 2001, 2002, 2003)
Emu (Giger et al., 1997)
Nubian goat (Friderici et al., 1995; Thompson et al., 1992)
Siamese cat (Cowell et al., 1976; Di Natale et al., 1992; Haskins et al., 1979c, 1981;
Jezyk et al., 1977)
Domestic short-haired cat (Giger, personal communication)
Miniature pinscher dog (Berman et al., 2004; Foureman et al., 2004; Neer et al.,
1992, 1995)
Welsh corgi dog (Giger, personal communication)
Miniature schnauzer dog (Berman et al., 2004), Chesapeake Bay retriever dog and
dachshund (Giger, personal communication)
Rat (Yoshida et al., 1993, 1994)
German shepherd (Haskins et al., 1984; Schuchman et al., 1989; Silverstein
Domrowski et al., 2004)
GUS mouse (Birkenmeier et al., 1989; Sands and Birkenmeier, 1993; Vogler et al.,
1990)
Domestic shorthair cat (Fyfe et al., 1999; Gitzelmann et al., 1994)
Siamese cat (Chrisp et al., 1970; Snyder et al., 1982; Wenger et al., 1980; Yamagami
et al., 1989)
Miniature poodle dog (Bundza et al., 1979)
NPC1 Domestic cat (Bundza et al., 1979)
Mouse (Loftus et al., 1997)
of neurosteroids ( Griffin et al. , 2004 ; Mellon et al. , 2004 ).
LSDs are classified by the primary substrates that accumulate
and are defined by the individual enzyme that is deficient
in activity. For example, the mucopolysaccharidoses
(MPSs) are a group of diseases resulting from defective
catabolism of GAGs (previously mucopolysaccharides).
Each of the MPSs is caused by impaired function of one
of 12 enzymes required for normal GAG degradation. In
humans, these disorders were initially defined by clinical
phenotype then by the particular GAGs (heparan, dermatan,
chondroitin, keratan sulfates) present in the patient’s urine.
Now, in addition to defining the diseases by the specific
enzyme deficiency, many are subdivided by the particular
mutation in the coding sequence of the gene responsible
for the defect.
Different mutations of the same gene may produce
similar diseases or somewhat varied degrees of disease
as is seen in humans with MPS IH (Hurler) and MPS IS
(Scheie), with and without CNS disease, respectively
( Neufeld and Meunzer, 2001 ), and in cats with MPS VI