Leucine Quantitative Urine 24H Test

This test measures the amount of leucine in your urine over a 24-hour period.

• This test is mainly used to diagnose Maple Syrup Urine Disease (MSUD), a rare genetic disorder that affects branched-chain amino acid metabolism.
• It can also diagnose other metabolic disorders or inborn errors of metabolism.
• Additionally, it is used to monitor the effectiveness of treatment for these conditions.

• A doctor may recommend this test when the patient shows symptoms like poor feeding, development delay, vomiting, seizures, or abnormal odour in urine or sweat.
• It is also recommended for newborn screening and routine follow-up for children with a family history of MSUD.

Elevated levels can indicate metabolic disorders, inborn errors of metabolism, or MSUD. An excess of leucine, found in some medical conditions, can lead to a variety of health problems, including damage to the kidneys and nervous system.

For the test, you will be given a container to collect all your urine for 24 hours. Fasting blood samples may also be taken along with the urine sample.

• While there are no specific preparations needed, it is advisable to consult your healthcare provider to determine if there are any particular requirements you should be aware of.
• Your doctor may ask you to avoid protein-rich foods and amino acid supplements for at least 12–24 hours before the test.
• Certain medications that affect leucine levels may also need to be stopped temporarily.

Other tests that may be recommended along with this test include amino acid analysis, plasma amino acid analysis, and genetic testing to confirm the diagnosis of MSUD or other metabolic disorders.

Leucine test or Maple Syrup Urine Disease screening test

Maple Syrup Urine Disease (MSUD) is a rare genetic metabolic disorder that affects branched-chain amino acid metabolism, leading to an accumulation of toxic substances in the body.