News on research and diagnostics for metabolic disorders and metabolic diseases.
Sequencing-based newborn screening could not identify all children with metabolic disorders or hearing loss, but could interrogate a larger number of conditions.
Exome sequencing had lower sensitivity and specificity for finding inborn errors of metabolism than conventional screening, but appeared to refine mass spec-based results.
Analyzing genetic and metabolic data for nearly 16,100 individuals with phenylketonuria, investigators identified disease severity and genotyping gradients, along with predictive clues.
A new analysis highlighted a decrease in the abundance of butyrate-producing bacteria among individuals with prediabetes or type 2 diabetes.
A Regeneron-led team identified four variants that affect LDL cholesterol levels and are much more prevalent among Southwestern American Indians.
