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. 2009 May 15:641–655. doi: 10.1016/B978-1-4160-3949-5.50069-8

TABLE 65-4.

Lysosomal Storage Diseases of Dogs and Cats

DISEASE ENZYME DEFICIENCY BREEDS AFFECTED WHITE BLOOD CELL ABNORMALITIES CLINICAL SIGNS
Mannosidosis α-d-Mannosidase
  • English springer spaniel

  • DSH, Persian cat

Lymphocyte, neutrophil, eosinophil, monocyte cytoplasmic vacuolization
  • Neurological and skeletal abnormalities

  • Retarded growth

  • Facial dysmorphism (flattened features)

Fucosidosis α-l-fucosidase English springer spaniel Lymphocyte vacuolization
  • Behavioral changes

  • Ataxia

  • Hearing and vision loss

MPS I α-l-iduronidase
  • Plott hound

  • DSH cats

  • Basophilic to metachromatic (pink-purple) neutrophil cytoplasmic granules

  • Lymphocyte granulation or vacuolization

  • Skeletal abnormalities

  • Facial dysmorphism

  • Dwarfism

  • Corneal opacities

  • Neurologic abnormalities

MPS VI Arylsulfatase B
  • Siamese and DSH cats

  • Miniature pinscher

See MPS I See MPS I
MPS VII β-Glucuronidase Dogs, cats See MPS I See MPS I
GM1 gangliosidosis β-d-Galactosidase
  • Siamese, DSH cats

  • Beagle, English springer spaniel, Portuguese water dog, mixed breed dog

Lymphocyte vacuolization
  • Ataxia

  • Visual deficits

GM2 gangliosidosis
  • β-d-

  • Hexosaminidase

Korat and DSH cats Japanese spaniel
  • Neutrophil granulation

  • Lymphocyte and/or eosinophil vacuolization

  • Corneal clouding

  • Muscle wasting

  • Cerebral and/or cerebellar dysfunction

DSH, Domestic short hair; MPS, mucopolysaccharidosis.