TY - JOUR
T1 - Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)
AU - Mushimoto, Yuichi
AU - Hasegawa, Yuki
AU - Kobayashi, Hironori
AU - Li, Hong
AU - Purevsuren, Jamiyan
AU - Nakamura, Isamu
AU - Taketani, Takeshi
AU - Fukuda, Seiji
AU - Yamaguchi, Seiji
N1 - Funding Information:
We are grateful to Yuka Ito, Toyomi Esumi, Midori Furui, Nana Tomita, and Shine Mushimoto for their technical assistance. This study was partly supported by grants from the Ministry of Health, Labour and Welfare of Japan, from the Ministry of Education, Culture, Sports, Science and Technology, and from the Program for Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NIBIO).
PY - 2009/9/1
Y1 - 2009/9/1
N2 - Glutaric acidemia type 1 (GA1) is usually diagnosed with an accumulation of glutaric acid (GA) or 3-hydroxyglutaric acid by GC/MS. In some cases, however, excretion of GA is low. We investigated enzymatic evaluation of GA1 using fibroblasts and MS/MS. After loading substrates, lysine, 2-aminoadipate (2AA), or GA, in fibroblasts, and incubating for 96 h, glutarylcarnitine (C5DC) levels in the media were measured. A significant increase of C5DC was observed in GA1 patients, irrespective of substrates added. 2AA showed the largest difference between patients and controls (p = 0.0004). Results suggested enzymatic evaluation of GA1 is useful under appropriate culture conditions.
AB - Glutaric acidemia type 1 (GA1) is usually diagnosed with an accumulation of glutaric acid (GA) or 3-hydroxyglutaric acid by GC/MS. In some cases, however, excretion of GA is low. We investigated enzymatic evaluation of GA1 using fibroblasts and MS/MS. After loading substrates, lysine, 2-aminoadipate (2AA), or GA, in fibroblasts, and incubating for 96 h, glutarylcarnitine (C5DC) levels in the media were measured. A significant increase of C5DC was observed in GA1 patients, irrespective of substrates added. 2AA showed the largest difference between patients and controls (p = 0.0004). Results suggested enzymatic evaluation of GA1 is useful under appropriate culture conditions.
UR - http://www.scopus.com/inward/record.url?scp=67651183921&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=67651183921&partnerID=8YFLogxK
U2 - 10.1016/j.jchromb.2009.04.043
DO - 10.1016/j.jchromb.2009.04.043
M3 - Article
C2 - 19467937
AN - SCOPUS:67651183921
SN - 1570-0232
VL - 877
SP - 2648
EP - 2651
JO - Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences
JF - Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences
IS - 25
ER -