Hereditary Xanthinuria (XDH-MOCOS)
Hereditary xanthinuria is an autosomal recessive genetic disorder that results in the presence of excessive amounts of xanthine in the urine. Xanthine is a metabolic by-product in the metabolic breakdown of nucleic acids to uric acid. This increases the risk for formation of xanthine bladder or kidney stones and can cause serious kidney disease.
Hereditary xanthinuria is a result of mutations in either xanthine dehydrogenase (XDH, type 1 xanthinuria) or molybdenum cofactor sulfurase (MOCOS, type 2 xanthinuria).
Xanthinuria can also occur from non-genetic factors such as exposure to drugs that inhibit XDH (e.g. allopurinol). This is termed iatrogenic xanthinuria.
So far, four different variants have been identified to cause Hereditary Xanthinuria:
- Type 2a: in Englis Toy Terrier / Manchester Terriers (Type 2a)
- Type 2b: in English Cocker Spaniels, and Cavalier King Charles Spaniels, and
- Type 2c: in Dachshunds (all types
There is also Type 1a variant which is not included in our panel.
Our test includes Xanthinuria Type II only. However, We will only run the varian that is relevant to the breed of the submitted sample. If you are submitting a sample from a breed that is not listed, we recommend running all three tests or specify which variant(s) you would like us to run.
Genetic test in helpful is guiding medical management of affected dogs, identifying dogs at risk even before they form stones, and to inform breeding decisions.
Autosomal recessive
