Histidine Quantitative Urine 24H Test

This test measures the amount of histidine present in your urine over a period of 24 hours.

• This test is usually done to diagnose metabolic or genetic disorders that affect the levels of histidine in the body.
• It may also be done to monitor the effectiveness of treatment or to assess the severity of an existing condition.

Your doctor may recommend this test if you have

• Symptoms suggestive of metabolic or genetic disorders.
• A family history of metabolic or genetic disorders.
• Abnormal results from other diagnostic tests that suggest a metabolic or genetic disorder.
• Suspicion of Inborn errors of metabolism suspicion or a provisional diagnosis of the same by a clinician.

Abnormal levels of histidine can indicate certain metabolic or genetic disorders.

During this test, you will be asked to collect all your urine over 24 hours in a special container provided by the laboratory. Follow the instructions for collecting and storing the urine sample properly.

• Your doctor may advise you to stop taking certain medications and amino acid supplements that could affect the test results.
• Follow any fasting instructions provided by your doctor.
• Drink plenty of fluids during the 24-hour collection period.

Other tests that may be recommended alongside the Histidine Quantitative Urine 24H Test include the following:

• Blood amino acid profile: This test measures the levels of various amino acids in the blood.
• Urine amino acid profile: This test measures the levels of various amino acids in the urine.
• Genetic testing: This test helps identify any genetic mutations associated with metabolic or genetic disorders.

Histidinemia screening test

Histidinemia is a metabolic disorder caused by mutations in the enzyme responsible for breaking down histidine. This leads to an excessive build-up of histidine in the body, which could cause developmental delays, speech problems, and behavioural issues.