Biomaterial Database

Fucosidosis in a family of American-bred English Springer Spaniels. 1996

M O Smith, and D A Wenger, and S L Hill, and J Matthews

Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins 80523, USA.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009460	Neurologic Examination	Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.	Examination, Neurologic,Neurological Examination,Examination, Neurological,Examinations, Neurologic,Examinations, Neurological,Neurologic Examinations,Neurological Examinations
D001947	Breeding	The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.	Breedings
D004283	Dog Diseases	Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.	Canine Diseases,Canine Disease,Disease, Canine,Disease, Dog,Diseases, Canine,Diseases, Dog,Dog Disease
D004285	Dogs	The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)	Canis familiaris,Dog
D005260	Female		Females
D005645	Fucosidosis	An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)	Fucosidase Deficiency Disease,Alpha-Fucosidase Deficiency,Deficiency Disease, alpha-Fucosidase,Deficiency Disease, alpha-L-Fucosidase,Fucosidase Deficiency,Fucosidosis Type 1,Fucosidosis Type I,Fucosidosis Type II,Fucosidosis, Infantile,Fucosidosis, Juvenile,alpha-Fucosidase Deficiency Disease,alpha-L-Fucosidase Deficiency,alpha-L-Fucosidase Deficiency Disease,Deficiency Disease, Fucosidase,Deficiency Disease, alpha Fucosidase,Deficiency Disease, alpha L Fucosidase,Deficiency Diseases, Fucosidase,Deficiency Diseases, alpha-Fucosidase,Deficiency Diseases, alpha-L-Fucosidase,Disease, Fucosidase Deficiency,Disease, alpha-Fucosidase Deficiency,Disease, alpha-L-Fucosidase Deficiency,Diseases, Fucosidase Deficiency,Diseases, alpha-Fucosidase Deficiency,Diseases, alpha-L-Fucosidase Deficiency,Fucosidase Deficiency Diseases,Fucosidosis Type 1s,Infantile Fucosidosis,Juvenile Fucosidosis,Type 1, Fucosidosis,Type 1s, Fucosidosis,alpha Fucosidase Deficiency Disease,alpha L Fucosidase Deficiency Disease,alpha-Fucosidase Deficiency Diseases,alpha-L-Fucosidase Deficiency Diseases
D000818	Animals	Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA.	Animal,Metazoa,Animalia