Acylcarnitines are fatty acid metabolites that play important roles in many cellular energy
metabolism pathways. They have historically been used as important diagnostic markers for …

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 …

Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …

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

Multiple models of human metabolism have been reconstructed, but each represents only a
subset of our knowledge. Here we describe Recon 2, a community-driven, consensus' …

Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine
catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of …

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

Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …

Perturbations in metabolic pathways can cause substantial increases in plasma and tissue
concentrations of long-chain acylcarnitines (LCACs). For example, the levels of LCACs and …

Newborn screening (NBS) is a population-based program with a goal of reducing the
burden of disease for conditions with significant clinical impact on neonates. Screening tests …