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Cystinuria Type B (D236N)

General description

Cystinuria is a hereditary metabolic disorder in cats in which the kidneys do not function properly. As a result, the amino acid cystine is excreted in increased amounts in the urine. Cystine is poorly soluble in water, so accumulations of this substance in the urine crystallize, forming stones. In this variant, the urinary stones that cause the clinical symptoms occur during adolescence through middle age. This can lead to a life-threatening blockage of the urinary tract.

Breeds

Domestic Medium-Haired

Test Number Included only in LABOGeneticsXXL – Cat
Abbreviation Cys
Inheritance Pattern presumably autosomal recessive
Gene SLC7A9
Mutation G-A
References OMIA:002023-9685