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Quantitative amino acid analysis can detect specific amino acid disorders such as phenylketonuria (PKU) and maple syrup urine disease (MSUD), and urea cycle defects. Urine amino acids can detect renal transport disorders. Quantitation of amino acids can also be performed on spinal fluid for confirmation of a diagnosis and to assess the degree of brain involvement in metabolic defects of biogenic amine neurotransmitters. Abnormal amino acid patterns provide key information about physiological and pathological metabolic status in patients.
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