A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry—rapid, practical, and simultaneous urinary metabolites analysis

A study on α-ketoadipic aciduria by gas chromatographic-mass spectrometry

“…This method, however, takes several hours, needs skillful technicians, and is not so practical. Therefore, Shoemaker's procedure was simplified for use in multiple sample analysis [12] . As a result, rapid practical and simultaneous analysis of amino acids and organic acids became possible.…”

“…All samples were frozen at -20 until analysis. Creatinine was determined and urine volumes equivalent to 1µmol creatinine were prepared prior to GC/MS analysis by organic solvent extraction [11] or urease-pretreatment [12] …”

“…Samples were analyzed using GC/MS-computer systems of QP-5000 (Shimadzu , Japan) and HP-6890 (Hewlett Packard, USA) as well as the new diagnostic method described previously [12,14,15] . The concentrations of these compounds were normalized to urinary creatinine and expressed as mmol per mol creatinine.…”

Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis

“…For this method, organic solvent extraction is usually employed for the pretreatment of samples, because target substances such as organic acids are easily collected and contamination of GC column can be prevented (Kimura et al 1999). On the other hand, urease pretreatment non-extraction (urease/ direct) method is mainly used for GC/MS metabolome analysis, which enables simultaneous analysis for not only organic acids, but also amino acids, sugar, purine and pyrimidines (Matsumoto and Kuhara 1996;Iga et al 2000). But this method is not common for ordinary organic acid analysis because peak detection is cumbersome and column contamination is concerned.…”

High-Resolution Metabolic Phenotyping of Genetically and Environmentally Diverse Potato Tuber Systems. Identification of Phenocopies

“…That these developments have occurred in parallel with both the elucidation of complete genomes of several organisms and the rapid development of multiparallel technologies to describe properties of the biological systems (for review, see Celis et al, 2000) has provided the driving force behind many genomics initiatives. The most visible of these technologies is expression profiling (Lockhart et al, 1996;Ruan et al, 1998;Terryn et al, 1999;Aharoni et al, 2000;Richmond and Somerville, 2000); however, techniques for describing the protein (Shevchenko et al, 1996;Santoni et al, 1998;Chang et al, 2000) and metabolite complement (Duez et al, 1996;Matsumoto and Kuhara, 1996;Fiehn et al, 2000;Roessner et al, 2001) of the cell are now being widely developed.…”