Diagnosis

1. Blood amino acid test: The heel of the patient is cleansed with germ-killing solution and then blood is collected. Chromatography is used to determine the amino acid levels in the blood.

Listed below are the normal values of amino acids in the blood. Measurements are in micromole per liter (micro mol/L).

·         Isoleucine

o    Children: 37 to 140

o    Adults: 42 to 100

·         Leucine

o    Children: 70 to 170

o    Adults: 66 to 170

   ·         Valine

• Children: 160 to 350
• Adults: 150 to 310

Abnormal increased levels of these amino acids might signify that the patient has MSUD.  Patients will undergo further testing to confirm MSUD.

2. Urine amino acid test: As the name suggests, the patient’s urine is collected and chromatography is used to determine the amino acid levels in the blood.

Listed below are the normal values of AAs in the blood. Measurements are in micromole per deciliter( micromole/dL)

·         Isoleucine

o    Children: 3 to 15

o    Adults: 4 to 23

·         Leucine

o    Children: 9 to 23

o    Adults: 20 to 77

• Valine
• Children: 17 to 37
• Adults: 19 to 74

Abnormal increased levels of these amino acids might signify that the patient has MSUD. Patients will undergo further testing to confirm MSUD. 




References

The New York Times. (2011, December 5). Plasma Amino Acids. Retrieved June 18, 2012, from http://health.nytimes.com/health/guides/test/plasma-amino-acids/overview.html
The New York Times (2012, December 5). Aminoaciduria. Retrieved June 18, 2012, from http://health.nytimes.com/health/guides/test/aminoaciduria/overview.html