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Fucosidosis in a family of American-bred English Springer Spaniels

1996; American Veterinary Medical Association; Volume: 209; Issue: 12 Linguagem: Inglês

10.2460/javma.1996.209.12.2088

1943-569X

Mary O. Smith, David A. Wenger, Steven L. Hill, J. L. Matthews,

Lysosomal Storage Disorders Research

Fucosidosis was detected in a family of English Springer Spaniels in the United States. To our knowledge, these are the first reported cases of this disease in American-bred dogs. Affected and carrier status of dogs were determined by measuring the activity of the enzyme alpha-L-fucosidase in plasma and in leukocytes. Fucosidosis results in neurologic signs, particularly changes in behavior, in adolescent and adult dogs. Late onset of signs may result in misdiagnosis as a primary behavior problem or acquired neurologic disease. Fucosidosis is inherited in an autosomal recessive manner, and carrier dogs are clinically normal. Thus, the abnormal gene can become widespread in a population before homozygous-affected dogs are produced.