Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism.

ABSTRACT:

Aims

We wished to determine the efficacy of using urine as an analyte to screen for a broad range of metabolic products associated with multiple different types of inborn errors of metabolism (IEMs), using an automated mass spectrometry-based assay. Urine was compared with plasma samples from a similar cohort analyzed using the same assay. Specimens were analyzed using two different commonly utilized urine normalization methods based on creatinine and osmolality, respectively.

Methods

Biochemical profiles for each sample (from both affected and unaffected subjects) were obtained using a mass spectrometry-based platform and population-based statistical analyses.

Results

We identified over 1200 biochemicals from among 100 clinical urine samples and identified clear bioc

SUBMITTER: Kennedy AD 

PROVIDER: S-EPMC5314726 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature