Amino Acid Analysis, LC/MS

Urine

Performed by: Quest Diagnostics

Amino acid analysis is necessary for the diagnosis of a variety of inborn errors of metabolism. These include, but are not limited to:

- phenylketonuria,

tyrosinemia,

citrullinemia,

non-ketotic hyperglycinemia,

maple syrup urine disease,

and homocystinuria.

The assay is also key for the continued monitoring of treatment plans for these disorders and useful for assessing nutritional status of patients.

Valine, together with Isoleucine and Leucine are essential amino acids and are collectively referred to as branched-chain amino acids (BCAAs).

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