Using the urine specimen of your newborn baby to screen for metabolic disorders, Metascreen™ is:
Unlike blood specimen collection, collecting urine specimen is a non-invasive procedure which will not cause any harm or discomfort to your baby. As parents ourselves, we know how hard it is to see our babies in distress when getting their heel pricked for blood specimen.
The human urine contains numerous water-soluble organic compounds that are end-products or by-products of cellular metabolism (also called “metabolites”). There are reportedly more than 3,000 detectable metabolites in human urine. As many metabolic disorders are organic acid disorders (also known as “organic acidemias”), they can be detected more accurately using urine, based on the abnormal excretion patterns of the metabolites as a result of faulty metabolism caused by the disorder. Because our kidneys can efficiently remove unwanted or toxic metabolites from the blood, such compounds are excreted in large amounts in the urine, but may not be found in significant concentrations in blood.
The American College of Medical Genetics (ACMG) actually recommends urine organic analysis as the diagnosis step for many of the organic acidemias and amino acidemia, should there be a positive newborn screening result using the dried blood spot analysed by tandem mass spectrometry (MS/MS).
Mass chromatograms of trimethylsilyl derivatives of metabolites from a patient with propionic acidemia.
Ion ofm/z 177 at 4.8 min and that ofm/z 479 at 9.98 and 10.02 are due to 3-hydroxypropionate (di-TMS) and diastereomers of methylcitrate (tetra-TMS), respectively. The ion ofm/z327 at 11.8 min is due ton-heptadecanoate (mono-TMS) used as an internal standard: 50 nmole was spiked in 0.1 ml of urine or serum.