Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially
during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most …

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 …

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

In many European countries neonatal screening has been introduced over the last 50 years
as an important public health programme. Depending on health care structure, available …

BACKGROUND: Although extended newborn screening (NBS) programs have been
introduced more than 20 years ago, their impact on the long-term clinical outcome of …

Background Observational reports suggest that supplementation that increases citric acid
cycle intermediates via anaplerosis may have therapeutic advantages over traditional …

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

Background Long chain fatty acid oxidation disorders (LC-FAODs) are caused by defects in
the metabolic pathway that converts stored long-chain fatty acids into energy, leading to a …

In a survey conducted in 2010/2011 data from the 28 EU member states, four EU candidate
states (Croatia, FYROM, Iceland, Turkey), three potential EU candidate states (Bosnia …

Newborn screening is important for the early detection of many congenital genetic and
metabolic disorders, aimed at the earliest possible recognition and management of affected …