Alkaptonuria, Spot Urine
About Alkaptonuria, Spot Urine test
Alkaptonuria, Spot Urine test is used to detect the presence of homogentisic acid in a urine sample. Homogentisic acid is an intermediate of the metabolic breakdown of amino acids (tyrosine and phenylalanine). Alkaptonuria is a genetic condition where the body is unable to properly break down homogentisic acid, resulting in its buildup in the urine. Elevated levels of homogentisic acid can cause the urine to darken when exposed to air.
Thus, getting tested for alkaptonuria is highly recommended as it allows for early detection of the condition, enabling timely management
Symptoms of alkaptonuria
Darkening of urine when exposed to air
Dark spots on the white of the eye and cornea
Skin discoloration
Joint pain and stiffness
Thickened and darkened cartilage in ears
Breathing difficulties
Heart disease
Kidney stones
When is Alkaptonuria, Spot Urine test done?
Alkaptonuria, Spot Urine test is performed
To confirm the presence of alkaptonuria in individuals exhibiting symptoms such as darkening of urine upon exposure to air
To monitor the effectiveness of treatments and interventions aimed at managing the condition
In individuals having a family history of alkaptonuria
Test preparation
Ensure your doctor is aware of what prescription drugs, over-the-counter medicines, or dietary supplements you are taking. Ask your doctor for details about pre-test preparations, and make sure to follow instructions closely.
Interpretation of the Test Results
Positive result
The test result is determined by the change in color of the urine. If the urine turns black after adding ferric chloride, it indicates the presence of homogentisic acid. This is considered to be a positive result.
Negative result
If the urine colour remains the same or doesn't turn black after adding ferric chloride, it means that there is no homogentisic acid in the urine. This is referred to as a negative result
FAQs
How is the sample collected for the Alkaptonuria, Spot Urine test ?
A urine sample is used for this test. You will be given a sterile container by your healthcare provider to collect a urine sample.
Midstream urine collection is the proper technique for taking a urine sample. The first few urine drops should be discarded because they could contain microorganisms that are present on the genital surface. It is advised that you clean the area around your genitalia before taking a urine sample
What are the risks involved in the Alkaptonuria, Spot Urine test sample collection?
Urine sample collection for Alkaptonuria, Spot Urine test does not pose any risks
Why does urine turn dark when it is exposed to air in individuals with alkaptonuria?
When an individual has alkaptonuria, their body lacks an enzyme that is responsible for breaking down homogentisic acid. This acid tends to accumulate and undergo oxidation, resulting in the darkening of urine upon exposure to air
Can alkaptonuria be inherited?
Yes. Alkaptonuria is an inherited condition that occurs as a result of a genetic mutation in the Homogentisate 1,2-dioxygenase (HGD) gene
What other conditions can cause high levels of homogentisic acid in urine?
Liver disorders, including liver failure and hepatitis, can have an impact on the proper metabolism of amino acids. This disruption can potentially lead to an increase in homogentisic acid levels
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