New developments in the treatment and management of phenylketonuria (PKU) as well as
advances in molecular testing have emerged since the National Institutes of Health 2000 …

Importance Newborn screening for severe combined immunodeficiency (SCID) using
assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and …

Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …

Over 50 years after the introduction of a blood-spot newborn screening test using the
bacterial-inhibition assay (BIA), blood-spot newborn screening has evolved into complex …

Purpose: The purpose of this study was to compare performance metrics of postanalytical
interpretive tools of the Region 4 Stork collaborative project to the actual outcome based on …

Abstract IEM screening by ESI/MS/MS was introduced in Singapore in 2006. There were two
phases; a pilot study followed by implementation of the current program. The pilot study was …

Objective In order to enhance awareness and promote registry for inborn errors of
metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings …

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a fatty acid oxidation
disorder with widely varying presentations that has presented a significant challenge to …

Purpose: Newborn screening includes testing for many metabolic diseases. False-positive
results are higher among neonatal intensive care unit infants, resulting in increased …

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty acid oxidation disorder
included on newborn screening (NBS) panels in many regions that have expanded to using …