Disorders Screened by Tandem Mass Spectrometry

Disorders Screened by Tandem Mass Spectrometry 1. A tandem mass spectrometer is an analytical instrument consisting of two mass spectrometers in series connected by a reaction chamber or collision cell. It can identify a compound by its mass and determine how much of the compound is present. Through tandem mass spectrometry analysis, many genetic disorders can be detected from one blood specimen. 2. Medium Chain Acyl-CoA Dehydrogenase Deficiency: Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) is a hereditary condition that is caused by a lack of an enzyme required to convert fat to energy. For individuals with this condition, prolonged fasting can lead to hypoglycemia, vomiting, lethargy, seizures, coma, apnea, cardiac arrest, or sudden unexplained death. 3. Phenylketonuria: Phenylketonuria (PKU) is a genetic disorder inherited as an autosomal-recessive trait caused by the absence of an enzyme that is necessary for metabolism of the essential amino acid phenylalanine. If untreated, neurologic deterioration, seizures, and severe mental retardation will occur. 4. Other Disorders: Other less prevalent conditions are detectable by tandem mass spectrometry. They are grouped into amino acid disorders, organic acid disorders, and fatty acid disorders (See Attachment A). Many of these conditions can be life threatening if appropriate and timely interventions are not initiated.