Amino Acid Metabolism Disorders
Our new flexible assay MassChrom® Amino Acid Analysis in Plasma/Serum enables the quantitative determination of 48 amino acids in less than 20 minutes and in one run. By this a large number of metabolic disorders and even rare diseases such as saccharopinuria can also be identified. Alternatively, the same assay allows the determination of 7 analytes for the common metabolic diseases PKU and MSUD - with an even faster run time of 8-9 minutes.
This table features exemplary amino acid metabolism disorders and associated changes in the amino acid profile that are covered by the assay.
More details are given in the appendix of the instruction manual of this assay.