Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry

被引：21

作者：

Sarker, Suprovath Kumar ^{[1
,2
]}

Islam, Md Tarikul ^{[1
]}

Biswas, Aparna ^{[1
]}

Bhuyan, Golam Sarower ^{[3
]}

Sultana, Rosy ^{[1
,4
]}

Sultana, Nusrat ^{[1
,5
]}

Rakhshanda, Shagoofa ^{[1
]}

Begum, Mst. Noorjahan ^{[1
,2
]}

Rahat, Asifuzzaman ^{[3
]}

Yeasmin, Sharmina ^{[6
]}

Khanam, Mowshori ^{[7
,8
]}

Saha, Asim Kumar ^{[9
]}

Noor, Farjana Akther ^{[1
,10
]}

Sajib, Abu A. ^{[2
]}

Islam, Abul B. M. M. K. ^{[2
]}

Qadri, Syeda Kashfi ^{[11
]}

Shahidullah, Mohammod ^{[12
]}

Mannan, Mohammad Abdul ^{[12
]}

Muraduzzaman, A. K. M. ^{[13
]}

Shirin, Tahmina ^{[13
]}

Rahman, Sheikh Maksudur ^{[14
]}

Qadri, Syed Saleheen ^{[1
]}

Saha, Narayan ^{[15
]}

Akhteruzzaman, Sharif ^{[2
]}

Qadri, Firdausi ^{[1
,3
,16
]}

Mannoor, Kaiissar ^{[1
,3
]}

机构：

[1] Inst Developing Sci & Hlth Initiat, Lab Genet & Genom, Dhaka 1212, Bangladesh

[2] Univ Dhaka, Dept Genet Engn & Biotechnol, Dhaka 1000, Bangladesh

[3] Inst Developing Sci & Hlth Initiat, Infect Dis Lab, Dhaka 1212, Bangladesh

[4] Bangladesh Univ Hlth Sci, Dhaka, Bangladesh

[5] Dhaka Med Coll, Dept Virol, Dhaka 1000, Bangladesh

[6] Gen Hosp, Bangladesh Inst Hlth Sci, Dept Gynecol & Obstet, 125-1,Mirpur 1, Dhaka 1216, Bangladesh

[7] Ain Shams Gen Hosp, Gazipur, Bangladesh

[8] Diagnost Ctr Pvt Ltd, Sign Board, Gazipur, Bangladesh

[9] Narsingdi Sadar Hosp, Raipur, Narsingdi, Bangladesh

[10] Univ Dhaka, Dept Biochem & Mol Biol, Dhaka, Bangladesh

[11] KKWomens & Childrens Hosp, Dept Paediat Med, Singapore, Singapore

[12] Bangabandhu Sheikh Mujib Med Univ, Dept Neonatol, Dhaka, Bangladesh

[13] Inst Epidemiol Dis Control & Res, Dept Virol, Dhaka, Bangladesh

[14] Incepta Chem Ltd, Res & Dev, Dhaka 1810, Bangladesh

[15] Natl Inst Neurosci & Hosp, Pediat Neurol, Dhaka 1207, Bangladesh

[16] Int Ctr Diarrhoeal Dis Res, Infect Dis Div, Dept Enter & Resp Infect Dis, Dhaka, Bangladesh

来源：

BIOMED RESEARCH INTERNATIONAL | 2019年 / 2019卷

关键词：

ECONOMIC-EVALUATION; DISORDERS; NEWBORNS; PILOT;

D O I：

10.1155/2019/3460902

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Liquid Chromatography tandem mass spectrometry (LC-MS/MS) is used for the diagnosis of more than 30 inborn errors of metabolisms (IEMs). Accurate and reliable diagnosis of IEMs by quantifying amino acids (AAs) and acylcarnitines (ACs) using LC-MS/MS systems depend on the establishment of age-specific cut-offs of the analytes. This study aimed to (1) determine the age-specific cut-off values of AAs and ACs in Bangladesh and (2) validate the LC-MS/MS method for diagnosis of the patients with IEMs. A total of 570 enrolled healthy participants were divided into 3 age groups, namely, (1) newborns (1-7 days), (2) 8 days-7 years, and (3) 8-17 years, to establish the age-specific cut-offs for AAs and ACs. Also, 273 suspected patients with IEMs were enrolled to evaluate the reliability of the established cut-off values. Quantitation of AAs and ACs was performed on an automated LC-MS/MS system using dried blood spot (DBS) cards. Then the specimens of the enrolled clinically suspected patients were analyzed by the established method. Nine patients came out as screening positive for different IEMs, including two borderline positive cases of medium-chain acyl-CoA dehydrogenase deficiency (MCAD). A second-tier test for confirmation of the screening positive cases was conducted by urinary metabolic profiling using gas chromatography- mass spectrometry (GC-MS). Out of 9 cases that came out as screening positive by LC-MS/MS, seven cases were confirmed by urinary GC-MS analysis including 3 cases with phenylketonuria, 1 with citrullinemia type II, 1 with methylmalonic acidemia, 1 with isovaleric acidemia and 1 with carnitine uptake defect. Two borderline positive cases with MCAD were found negative by urinary GC-MS analysis. In conclusion, along with establishment of a validated LC-MS/MS method for quantitation of AAs and ACs from the DBS cards, the study also demonstrates the presence of predominantly available IEMs in Bangladesh.

引用

页数：11

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