Mass Spectrometry

Amino acids are the fundamental building blocks of proteins and are distributed throughout the human body. Numerous inherited disorders of amino acid metabolism, such as phenylketonuria and tyrosinemia, have been well characterized. Amino acid disorders can occur at any age and result in the accumulation or deficiency of one or more amino acids, leading to the characteristic clinical signs and symptoms of specific metabolic disorders.
Clinical manifestations vary depending on the affected amino acid pathway and may include growth retardation, neurological symptoms, gastrointestinal disorders, dermatological manifestations, and cognitive impairment. Without timely diagnosis and treatment, amino acid disorders may lead to intellectual disability and can even be life-threatening.
Early and systematic monitoring of amino acid levels facilitates the early detection of amino acid imbalances, enables assessment of disease risk, and supports timely targeted intervention to improve health outcomes.
This quality control material is intended for use in combination with the company's Sample Releasing Reagent (21 Amino Acids) for quality control of the 21 Amino Acids assay using liquid chromatography–tandem mass spectrometry (LC-MS/MS) in clinical laboratories.