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Screening Newborn screening for maple syrup urine disease involves analyzing the blood of 1-2 day-old newborns through tandem mass spectrometry. The blood concentration of leucine and isoleucine is measured relative to other amino acids to determine if the newborn has a high level of branched-chain amino acids. Once the newborn is 2–3 days old the blood concentration of branched-chain amino acids like leucine is greater than 1000 µmol/L and alternative screening methods are used. Instead, the newborn’s urine is analyzed for levels of branched-chain alpha-hydroxyacids and alpha-ketoacids

Newborn screening is when Maple Syrup Urine Disease (MSUD) is diagnosed in almost all cases. To diagnose MSUD clinicians will use tandem mass spectrometry to measure the whole blood combined leucine-isoleucine concentration and its ratio to other amino acids in the blood such as; alanine and phenylalanine. When diagnosing MSUD doctors will use the presence of clinical features such as; elevated BCAAs and allo-isoleucine in the newborns plasma. The newborn’s urine is also tested for hydroxyacids and ketoacids in the urine. Some doctors will use molecular genetic testing to determine if patients have Maple Syrup Urine Disease, but if this is not used another way to be able to diagnose Maple Syrup Urine Disease, it begins with biochemical testing. Quantitative plasma amino acid analysis A lab can use quantitative plasma amino acid analysis to test for an increased plasma concentration of leucine. There also may be increased levels of plasma isoleucine and valine, but these levels can also be normal or even reduced. This test will also look for a plasma concentration of allo-isoleucine, which is a distinctive metabolite that is present in all types of Maple Syrup Urine Disease.

Tandem Mass Spectrometry (MS/MS)-based amino acid profiling

This tandem mass spectrometry (MS/MS)-based amino acid profiling is done on the dried blood spots that were obtained during the newborn screening program between 24–48 hours old and this test quantifies whole blood concentration ratios of leucine+isoleucine to alanine and phenylalanine.

Urine Analysis

In a child older than 48–72 hours urinary excretion of branched-chain alpha-hydroxyacids and alpha-ketoacids occurs in the urine. The gas chromatography-mass spectrometry test can identify large amounts of branched-chain ketoacids and branched-chain hydroxyacids in the urine and provides a quantitative amount. For a non-quantitative test the lab uses dinitrophenylhydrazine test, which is done by mixing the urine and dinitrophenylhydrazine reagent in equal amounts and then waiting 10 minutes for precipitate to form and this is scored from 0 to 4 based on the amount of precipitate formed. Lastly using standard urine strips the lab can test for ketonuria and can be used as a surrogate marker if there is not time to run the other tests.