Related Experiment Video
Updated: Jun 14, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant
Abstract:
Multiple screening for aminoacidopathies has been attempted with a simple micromethod (Lancet, 2: 230, 1964) requiring only 10 mul. of plasma collected in a capillary tube and processed by a chromatographic technique. In a survey of 1250 infants, two newborn infants with phenylketonuria, two older infants with hypermethioninemia-tyrosinemia and hepatic cirrhosis were found, and approximately 10% of the premature infants had marked hypertyrosinemia. Multiple screening therefore has the advantage of multiple diagnosis over other techniques which screen specifically for a single disease. Pilot screening projects with this and other techniques could improve our knowledge of heritable metabolic disease so that mass screening for such problems may eventually be justifiable.
More Related Videos
07:08A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status
Published on: October 20, 2016
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Related Concept Videos
Inborn Errors of Metabolism
Amino Acid Biosynthetic Pathways
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Peptide Identification Using Tandem Mass Spectrometry
This technique helps gather information regarding the protein from which the peptide was obtained and to study the peptides’ amino acid sequence. Identifying peptides from a complex mixture is an important component of the growing field of...
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...