Origins of spurious organic acidurias

Abstract

Testing for inborn errors of organic acid metabolism is increasing in importance as more diseases are being identified with newer and more sensitive technologies. Although these metabolic diseases are rare, the consequences are life-threatening. The potential for extraneous factors to cause false findings and unnecessary replicate analyses is substantial. If health professionals involved in testing these patients would submit complete information and become educated about the nonmetabolic factors that may cause these results, testing could be made more efficient.