2005 Fiscal Year Final Research Report Summary
Develop a new system for inborn errors of purine and pyrimidine metabolism
| Project/Area Number |
16591046
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | NAGOYA CITY UNIVERSITY |
|---|
Principal Investigator |
ITO Tetsuya Nagoya City University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究科, 助手 (80336677)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
ITO Yasuhiko Nagoya City University, Graduate School of Medical Sciences, Research Associate, 大学院・医学研究科, 助手 (20347397)
SUMI Satoshi Nagoya City University, Graduate School of Medical Sciences, Research Fellow, 大学院・医学研究科, 研究員 (20305527)
|
|---|
| Project Period (FY) |
2004 – 2005
|
| Keywords | Inborn errors of purine and pyrimidine metabolism / Tandem mass spectrometry / Uric acid |
|---|
| Research Abstract |
Inherited disorders of purine and pyrimidine metabolism have a wide variety of clinics presentation which includes such as anemia, immunodeficiency, kidney stones, convulsions, mental retardation, autism and growth retardation. Some of them are non-specific and the severity of the cases ranges from fatal to asymptomatic. Because of this broad clinical spectrum, a simple, rapid and specific screening method is desired for the diagnosis of these disorders in patients at risk, which is necessary for appropriate treatment, genetic counseling and prenatal diagnosis. In this study, we examined uric acid, hypoxanthine, xanthine, adenosine, caffeine and theophylline with high-performance liquid chromatography (HPLC)/electrospray ionization (ESI) tandem mass spectrometry (MS/MS) for rapid and specific analysis of purine metabolite.
To obtain the best condition for MS/MS, standard chemicals were injected directly to MS/MS. Adenosine showed a good peek of m/z 268 in positive ion mode. Caffeine and hypoxanthine showed a peek of m/z 196 and 137 in positive mode, respectively. Theophylline's peek in negative ion mode was m/z 179, but no good peek was obtained in positive ion mode. Uric acid showed no good peek neither positive nor negative ion mode. Thus, it was difficult to analyze all of these purine metabolites within one injection in this condition.
We developed a new method for urinary adenosine analysis with column-switching HPLC. This method showed good separation and sensitivity for urinary adenosine levels. We observed high excretion of adenosine in the patient with severe respiratory failure.
|
