New lab test to screen infants

FDA Consumer, Nov-Dec, 2004

Newborns can be screened for a variety of infant diseases using a new test done on blood from heel-stick samples--the same type of sample used for state-mandated newborn screening tests. The blood sample is measured for levels of amino acids and substances called free carnitine and acylcarnitines. The test, Neo-Gram Amino Acids and Acylcarnitines Tandem Mass Spectrometry Kit, provides screening information that, when used with clinical evaluation and other tools, can determine a newborn baby's risk for disorders related to metabolism of these substances.

While small amounts of these substances are found in everyone, abnormally high amounts, or abnormal patterns, may indicate different disease states called inborn errors of metabolism. These diseases include phenylketonuria (PKU), maple syrup urine disease (MSUD), medium chain Acyl-CoA dehydrogenase deficiency (MCAD), isovalericacidemia, homocystinuria, and hereditary tyrosinemia.

These diseases can cause developmental delay, seizures, mental retardation, and death. With early identification, many of the effects of these diseases can be significantly reduced, with improved outcomes and improved quality of life.

Perkin Elmer Life and Analytical Sciences Inc. of Norton, Ohio, manufactures the screening test.