Description: Hereditary metabolic disorder of transport of amino acids (cysteine, lysine, arginine) in kidneys. There is an accumulation of cystine in the kidneys, which may further clot to form stones and lead to inflammation. Cysteine is insoluble in an acidic environment and, therefore, individuals with cystinuria accumulate insoluble cysteine in the urine (because urine is acidic). As a result, cysteine crystals are formed, and later urinary stones are formed. The disease process and the amount and size of cysteine crystals are determined by a number of factors e.g. age, gender, urine pH, and density. There is difficulty in urinating, blood may be present in the urine. This disease, if left untreated, can lead to kidney failure and dog death.

H

Inheritance: autosomal recessive

Mutation: SLC3A1 c.574A>G (I192V) – exon 2,

SLC3A1 c.2092A>G(S698G) – exon 10 and

SLC7A9 c.649G>A

Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes

 

The analysis is suitable for the following breeds: English Bulldog, French Bulldog

 

Notes: Possible genotypes are:

 

RISK of cystinuria development
574A>GG/G
2092A>GG/G
649G>AA/A or G/A (incomplete recessive inheritance)
It is recommended to mate only with a partner who does not carry any of these mutations
CARRIERS at RISK of cystinuria development
574A>GA/G
2092A>GA/G
649G>AG/G or G/A
It is recommended to mate only with a partner who does not carry any of these mutations
OUT of RISK of cystinuria development
574A>GA/A (wild type alleles)
2092A>GA/A (wild type alleles)
649G>AG/G (wild type alleles)