abstract |
The present invention relates to newborn screening kits for high performance screening and analysis of metabolic disorders using liquid chromatography - mass spectrometry (LC-MS). Metabolic disorders may be disorders of amino acids, organic acids or fatty acid oxidation, and particularly disorders or deficiencies of the urea cycle, hyperammonemia, hyperornithinemia-hyperammonemia-homocitrulinuria (HHH), and / or argininosuccinic aciduria. |