Background Inborn errors of metabolism (IEM) are a group of over 500 heterogeneous
disorders resulting from a defect in functioning of an intermediate metabolic pathway …

Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …

Over the past three decades, we studied 184 individuals with 174 different molecular
variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential …

Background Expanded newborn screening (ENBS) utilizing tandem mass spectrometry
(MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid …

Background National newborn screening programmes based on tandem-mass spectrometry
(MS/MS) and other newborn screening (NBS) technologies show a substantial variation in …

Purpose: The purpose of this study was to describe the birth prevalence of genetic disorders
among different racial/ethnic groups through population-based newborn screening data …

Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism
that leads to irreversible nerve cell damage. However, its detection in the early days of life …

Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass
spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify …

Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism.
Patients deteriorate in times of increased metabolic demand and subsequent catabolism …

A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency
(PCD) since its first description in 1973. Advances in diagnostic procedures have improved …