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Severe cystinuria occurs when people are homozygous for the disease. For these individuals, the kidneys may excrete as much as 30 times the normal amount of cystine

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What is cystinuria?

Cystinuria is an inborn error of amino acid transport that results in the defective absorption by the kidneys of the amino acid called cystine. The name means "cystine in the urine."


What is the treatment for cystinuria?

The best treatment for cystinuria is to prevent stones from forming. Stones can be prevented by drinking enough liquid each day (about 5-7 qts) to produce at least 8 pts of urine,


What is Nitroprusside?

They are two tests that a laboratory would perform on urine to screen for metabolic diseases. The first is to detect ketoaciduria and the second to detect cystinuria/homocystinuria.


What is the diagnosis for cystinuria?

When the urine contains extremely high amounts of cystine, yellow-brown hexagonal crystals are visible when a sample is examined under the microscope.


What are the types of aminoaciduria?

There are several types of aminoaciduria, including cystinuria, Hartnup disease, and Lowe syndrome. Cystinuria involves the excessive excretion of cystine in the urine, while Hartnup disease is characterized by the impaired absorption of amino acids. Lowe syndrome is a rare genetic disorder that affects various systems in the body, including the kidneys.


What is phenylhydrazine-nitroprusside test?

They are two tests that a laboratory would perform on urine to screen for metabolic diseases. The first is to detect ketoaciduria and the second to detect cystinuria/homocystinuria.


What causes cystine crystal in the urine?

Cystine crystals in the urine are primarily caused by a genetic disorder known as cystinuria, which affects the kidneys' ability to reabsorb cystine, an amino acid. This leads to elevated levels of cystine in the urine, where it can precipitate and form crystals. Factors such as dehydration and urinary pH can also influence the formation of cystine crystals. Individuals with cystinuria are at an increased risk for kidney stone formation due to these crystals.


What is the test for sulphur containing amino acids?

The cyanide-nitroprusside test can be used to detect sulphur. The test detects sulphhydryl group compounds and is used to test urine in screening tests for the metabolic diseases, cystinuria and homocystinuria.


What kind of symptoms are there?

There are all kinds of symptoms there are respitory symptoms which have to do with your lungs and breathing. there are cardio symptoms which have to do with your heart there are skin symptoms (eg. rashes bullas blisters ETC). there are neurological symptoms which have to do with your brain. there are Nephrological symptoms which have to do with your kidneys and the filtration of blood and there are urinary symptoms which deal with your bladder


What are the symptoms to know that a woman is asymptomatic?

The word "asymptomatic" means "without symptoms." So it has no symptoms. If a woman has no symptoms, she is asymptomatic.


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