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Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Cystinuria is a metabolic disorder which causes a buildup of the amino acid cysteine in the urine. This buildup can form into painful kidney and bladder stones (uroliths), which can cause further dangerous complications such as obstructed urine flow, which requires immediate medical intervention. The disorder can be managed with a specialized diet.
In cats, there are three known mutations to the gene SLC7A9 that can cause Type B Cystinuria. This test analyses the Variant 2 mutation, designated as D236N. The exact mode of inheritance is still unknown, but the mutation is believed to be mostly recessive.
Clinical features
Affected cats can start developing uroliths anywhere between several months and 5 years of age. Symptoms of urinary tract obstruction from such uroliths include painful and/or bloody urination, passage of small volumes of urine, and ultimately an inability to urinate. This obstruction is life-threatening and requires immediate veterinary attention.
Additional information
References
Pubmed ID: 27404572
Omia ID: 2023