What question did this study set out to answer?

This research aims to establish plasma acylcarnitine and urinary organic acid profiles for diagnosing inborn errors of metabolism in newborns.

March 31, 2026Philippine Journal of Health Research and DevelopmentOpen Access

Plasma Acylcarnitine and Urinary Organic Acid Profiling for the diagnosis of Fatty Acid Oxidation Disorder and Organic Acidurias using tandem mass spectrometry (MS/MS) and gas chromatography tandem with mass spectrometry (GC-MS): A Retrospective Study

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Retrospective study reveals diagnostic effectiveness of acylcarnitines and organic acids in newborns, highlighting the need for confirmatory tests.

This research aims to establish plasma acylcarnitine and urinary organic acid profiles for diagnosing inborn errors of metabolism in newborns.
Conducted retrospective analyses of plasma acylcarnitines and urinary organic acids using FIA-MS/MS and GC-MS.
Retrieved data from IEM registry of the Biochemical Genetics Laboratory from 2015 to 2021.
Used descriptive statistics to evaluate detection rates of fatty acid oxidation disorders and organic acidurias.
Out of 1642 babies screened, 176 were confirmed positive for FAODs and organic acidurias.
Achieved a detection rate of 10.6%, with 104 cases of FAODs and 72 of organic acidurias.
Medium-chain acyl-CoA dehydrogenase deficiency was the most common FAOD with 67 cases identified.

Apacible et al. (2023) studied this question.

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Retrospective study reveals diagnostic effectiveness of acylcarnitines and organic acids in newborns, highlighting the need for confirmatory tests.