Development of automated GC/MS system for chemical diagnosis of inherited metabolic disorders

开发用于遗传性代谢疾病化学诊断的自动化 GC/MS 系统

• 批准号: 08672652
• 负责人: KUHARA Tomiko
• 金额: $ 1.41万
• 依托单位: Kanazawa Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1996
• 资助国家: 日本
• 起止时间: 1996 至 1997
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08672652/
• 关键词: chemical diagnosis; neonatal mass screening; pilot study; automated diagnostic system; metabolic disorder; GC; MS

By using the newly developed diagnostic procedure for inborn errors of metabolism, a pilot study of its application to newborn mass screening for 22 (at present, and will be increased) metabolic diseases was started in Japan on February 1,1995 in cooperation with four medical institutes (Kanazawa Medical University, Kurume University School of Medicine, Shimane Medical University, and Chiba Children's Hospital) and three instrument manufacturers (Shimadzu Seisakusho Ltd., JEOL Ltd., and Yokogawa Analytical Systems Inc.). This program is supported by the Japanese Society for Biomedical Mass Spectrometry and the Japanese Mass Screening Society. So far, 11,919 samples were tested by these institutes, and 8 cases were chemically diagnosed as having metabolic disorders. alpha-ketoadipic aciduria, methylmalonic aciduria, Hartnup disease, cystinuria (3 cases), glyceroluria and citrullinemia ; the latter 2 cases were found by Kurume University group. The rate of incidence was 1 per 1,490. Also, 106 cases were found to have transient metabolic abnormalities ; 91 cases with transient neonatal galactosuria, 15 cases with transient neonatal tyrosinuria. We believe this program can also offer valuable information on human genetics.

1995年2月1日，日本与四个医疗机构(金泽医科大学、库鲁姆大学医学院、岛根医科大学和千叶儿童医院)和三个仪器制造商(岛津地震株式会社、JEOL株式会社和横河分析系统公司)合作，利用新开发的先天性代谢性疾病诊断程序，开始了一项应用于新生儿大规模筛查22种(目前并将增加)代谢性疾病的初步研究。该项目得到了日本生物医学质谱学协会和日本质量筛选协会的支持。到目前为止，这些机构检测了11,919个样本，其中8例被化学诊断为代谢紊乱。甲酮酸尿症、甲基丙二酸尿症、Hartnup病、胱氨酸尿症(3例)、甘油尿症和瓜氨酸血症，后2例由库鲁姆大学研究组发现。发病率为1/1490。同时发现一过性代谢异常106例，一过性新生儿半乳糖尿91例，一过性新生儿酪氨酸尿15例。我们相信这个项目也可以提供关于人类遗传学的有价值的信息。

项目成果

久原とみ子: "マススクリーニングへの尿中代謝物一斉分析法の応用" Proc.Jap.Soc.Biomed.Mass Spectrom.21. 73-82 (1996)

Tomiko Kuhara：“尿代谢物同步分析在大规模筛查中的应用”Proc.Jap.Soc.Biomed.Mass.21 (1996)。

T.Fukao: "Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings : Identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes" Clin Genetics. 50.

T.Fukao：“两个日本兄弟姐妹的轻度 β-酮硫解酶缺乏症（线粒体乙酰乙酰辅酶 A 硫解酶缺乏症）：鉴定 EB 转化淋巴细胞中可检测的残留活性和交叉反应物质”Clin Genetics。

C.Ning: "Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC/MS." Clin.Chim : Acta. 247. 197-200 (1996)

C.Ning：“通过 GC/MS 对三名致命性婴儿线粒体肌病 - de Toni-Fanconi-Debre 综合征患者进行同步代谢谱研究。”

田丸陽一: "プロピオン酸血症の1例-栄養管理およびL-カルニチンの効果について" 小児科臨床. 49. 1707-1711 (1996)

Yoichi Tamaru：“丙酸血症一例 - 营养管理和左旋肉碱的作用”《儿科临床》49。1707-1711 (1996)

L.Suzuki: "Family study of 2,8-dihydroxyadenine stone formation:report of two cases of a compound heterozygote for adenine phosphoribosyl transferase deficiency(APRT^*J/APRT^*Q0)" Int.J.Urol. 4. 304-306 (1997)

L.Suzuki：“2,8-二羟基腺嘌呤结石形成的家庭研究：腺嘌呤磷酸核糖基转移酶缺乏症复合杂合子的两例报告（APRT^*J/APRT^*Q0）” Int.J.Urol。