Which aminoaciduria can be detected by tandem mass spectrometry in addition to phenylketonuria, maple syrup urine disease, and homocystinuria?

Tandem mass spectrometry (MS/MS) is a powerful analytical technique used for the rapid detection and quantitation of amino acids and organic acids in various clinical conditions, particularly in newborn screening. It allows for the simultaneous measurement of multiple metabolites, providing valuable information for the diagnosis of metabolic disorders.

Citrullinemia is an inherited disorder where the body is unable to properly metabolize certain amino acids due to a deficiency in the enzyme argininosuccinate synthetase. This deficiency leads to an accumulation of citrulline, which can be detected by tandem mass spectrometry. When a sample is analyzed, elevated levels of citrulline are indicative of this condition, making it an important addition to the panel of disorders detectable by MS/MS.

Detection of disorders like phenylketonuria, maple syrup urine disease, and homocystinuria via MS/MS is well-established due to their characteristic metabolic profiles. Citrullinemia fits within this context as it exhibits a distinct biomarker profile that can be identified alongside these other metabolic conditions.

In contrast, conditions such as alkaptonuria, Hartnup disease, and cystinuria do not typically present the same level of detection capability using tandem mass spectrometry. Alkap