Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan

被引:15
作者
Shigematsu, Yosuke [1 ,2 ]
Yuasa, Miori [1 ]
Ishige, Nobuyuki [3 ]
Nakajima, Hideki [4 ]
Tajima, Go [4 ]
机构
[1] Univ Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
[2] Uji Tokushukai Med Ctr, Dept Pediat, Uji 6110041, Japan
[3] Tokyo Hlth Serv Assoc, Div Newborn Screening, Tokyo 1628402, Japan
[4] Natl Ctr Child Hlth & Dev, Res Inst, Div Neonatal Screening, Tokyo 1578535, Japan
关键词
isomer; stable-isotope dilution; derivatization; homocystinuria; cobalamin; biotin; maternal; 3-methylcronylglycinuria; argininosuccinic acid; DRIED BLOOD SPOTS; FALSE-POSITIVE RATE; CHAIN AMINO-ACIDS; 2-METHYLCITRIC ACID; 3-HYDROXYGLUTARIC ACID; METHYLMALONIC ACID; TOTAL HOMOCYSTEINE; PLASMA; QUANTIFICATION; ALLOISOLEUCINE;
D O I
10.3390/ijns7030044
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
To minimize false-positive cases in newborn screening by tandem mass spectrometry in Japan, practical second-tier liquid chromatography-tandem mass spectrometry analyses have been developed using a multimode ODS column with a single set of mobile phases and different gradient elution programs specific to the analysis of acylcarnitines, acylglycines, amino acids, and organic acids. Most analyses were performed using underivatized samples, except for analysis of methylcitric acid, and careful conditioning of the column was necessary for analyses of organic acids. Our second-tier tests enabled us to measure many metabolites useful for detection of target disorders, including allo-isoleucine, homocysteine, methylmalonic acid, and methylcitric acid. We found that accumulation of 3-hydroxyglutaric acid was specific to glutaric acidemia type I and that the ratio of 3-hydroxyisovaleric acid to 3-hydroxyisovalerylcarnitine was useful to detect newborns of mothers with 3-methylcrotonyl-CoA carboxylase deficiency. Data from the analysis of short-chain acylcarnitine and acylglycine were useful for differential diagnosis in cases positive for C5-OH-acylcarnitine or C5-acylcarnitine.
引用
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页数:13
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