Homogentisic Acid (Alkaptonuria) Test

Homogentisic Acid Test measures the levels of homogentisic acid in your urine.

• To diagnose and monitor Alkaptonuria, a condition caused by a deficiency of the enzyme Homogentisic Acid Oxidase
• To evaluate the severity of the condition and track the effectiveness of treatment
• To identify carriers of the genetic mutation that causes Alkaptonuria

Homogentisic Acid Test may be recommended if

• you have symptoms suggestive of Alkaptonuria,
• you have a family history of Alkaptonuria, or
• you want carrier screening before planning a pregnancy.

Elevated levels may indicate a deficiency of the Homogentisic Acid Oxidase enzyme and suggest a diagnosis of Alkaptonuria.

During the test, you will have to provide a spot urine sample of approximately 10 ml. The sample will be sent to a laboratory for testing.

• Inform your doctor about any medications you are taking.
• Avoid foods high in tyrosine, such as bananas, potatoes, and chocolate, as well as vitamin B complex supplements, as they can affect test results.
• Follow any additional instructions provided by your doctor regarding dietary restrictions or medication adjustments.
• Inform your doctor if you have any specific requirements.

• Genetic Testing: To confirm the diagnosis of Alkaptonuria and identify specific genetic mutations
• Ochronosis Assessment: A physical examination or imaging tests may be recommended to evaluate the presence and extent of ochronosis in tissues
• Joint Function Assessment: Assessing joint mobility and function to monitor the impact of Alkaptonuria on joints

Alkaptonuria Test or Homogentisic Acid Oxidase Deficiency Test

Alkaptonuria is a rare genetic metabolic disorder characterised by the deficiency of the enzyme Homogentisic Acid Oxidase. This leads to the accumulation of homogentisic acid in the body and causes dark-coloured urine, ochronosis (darkening and thickening of connective tissues), and joint pain.