Background
a-Mannosidosis is a lysosomal storage disorder that is caused by the deficiency of lysosomal a-mannosidase. Typical clinical symptoms in humans include progressive mental retardation, recurrent infections, skeletal changes and hearing impairment. The disease in cats shows clinical, morphological and biochemical features closely resembling those of the human disease. All affected cats showed severe neurological disease, but clinical heterogeneity was apparent, as affected domestic longhaired cats had a milder and less progressive phenotype than affected Persian and short-haired domestic cats.
Test specific information
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Age
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
Metabolic diseases comprise a group of diseases in which the metabolism of nutrients in the body cells of a patient is affected. Typically, the metabolism is not working correctly due to missing (deficiency) of an enzyme or protein. The function of the enzyme in the metabolic process influences the gravity of the symptoms.
Breed dependence
This DNA test is available for the following breeds: Persian.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Swab, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
Inheritance
This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.
Severity of Disease
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