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.
Disorder
| Antiquitin deficiency and pyridoxine-responsive epilepsy |
| Argininaemia |
| Argininosuccinic aciduria (argininosuccinate lyase deficiency) |
| Carbamoyl phosphate synthetase deficiency (CPS) |
| Carnosinaemia |
| Citrullinaemia type I (argininosuccinate synthetase deficiency) |
| Citrullinaemia type II (aspartate-glutamate carrier deficiency) |
| Cystinuria |
| Glutamine synthetase deficiency |
| Glycogenosis type III (Cori/Forbes) |
| Gyrate atrophy of the choroid and retina |
| Hartnup disease |
| HHH (hyperammonaemia-hyperornithinaemia-homocitrullinuria) syndrome |
| Histidinaemia |
| Homocystinuria (cystathionine beta-synthase deficiency, CBS) |
| Hydroxyprolinaemia |
| Hyperlysinaemia |
| Hypermethioninaemia |
| Hyperprolinaemia |
| Hypophosphatasia (HPP) |
| Hypoprolinaemia |
| Iminoglycinuria |
| Lysinuric protein intolerance |
| Maple syrup urine disease (MSUD) |
| Methionine synthase deficiency (cblG disease) |
| Methylenetrahydrofolate reductase deficiency (MTHFR) |
| Methylmalonic aciduria (MMA) |
| Methyltransferase deficiency |
| Multiple carboxylase deficiency |
| Non-ketotic hyperglycinaemia (NKH) |
| Ornithine transcarbamoylase deficiency (OTC) |
| PKU - classical phenylketonuria and hyperphenylalaninaemia (phenylalanine hydroxylase deficiency) and atypical phenylketonuria |
| Propionic acidemia (PA) |
| Pyruvate carboxylase deficiency |
| Pyruvate dehydrogenase deficiency |
| S-adenosylhomocysteine hydrolase deficiency |
| Sarcosinaemia |
| Serine deficiency disorder |
| Sulfite oxidase and molybdenum cofactor deficiency |
| Tryptophanaemia |
| Tyrosinaemia type I (fumarylacetoacetase deficiency) |
| Tyrosinaemia type II (tyrosine transferase deficiency) |
This table does not claim to be complete.