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Cystinuria Type B (T392M)

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 appear at a very young age. This can lead to a life-threatening blockage of the urinary tract. Neurological symptoms have also been reported.

Breeds

German Shorthaired Pointer

Test Number Included only in LABOGeneticsXXL – Cat
Abbreviation Cys
Inheritance Pattern autosomal recessive
Gene SLC3A1
Mutation C-T
References OMIA:000256-9685