The Screening of Metabolic Disorders by GC-MS-COM System-PartI

• Published in: Journal of the Mass Spectrometry Society of Japan Vol. 24; no. 4; pp. 321 - 329
• Main Authors: HARAGUCHI, SHIN-ICHI, SHINKA, TOSHIHIRO, MIZUNO, TOKUO, KUHARA, TOMIKO, MATSUMOTO, ISAMU
• Format: Journal Article
• Language: English
• Published: Tokyo The Mass Spectrometry Society of Japan 1976; Japan Science and Technology Agency
• ISSN: 1340-8097; 1880-4225; 1884-3271
• DOI: 10.5702/massspec1953.24.321

Both organic acids and amino acids in urine were analyzed to find the metabolic disorders and the congenital metabolic diseases, as earlier as we can, by the GC-MS-COM screening system which is able to screen many kinds of diseases with one screening, in a small sample, rapidly and exactly. After the simple treatment which means the extraction of acids with diethyl ether at pH1and the elution of amino acids through the AG-50W-X12cation exchange resin, the sample of urine corresponding to5mg of creatinine was subjected, as a fundamental experiment, to the GC-MS-COM system equipped with one2m glass-coiled column packed with3%OV-17. When a patient's urine was analyzed in order of the procedure, a large peak which was not detected in normal urine, was identified as a methylmalonic acid by the analysis of the mass spectrum.