Investigation on the cut-off values of tandem mass spectrometry for neonatal inherited metabolic diseases in China

doi:10.3969/j.issn.1673-8640.2020.05.020

Abstract

Abstract:

Objective To investigate the cut-off values of 16 indicators for screening neonatal inherited metabolic diseases by tandem mass spectrometry in China,and to provide a reference on setting cut-off values for screening neonatal inherited metabolic diseases. Methods The data related to the cut-off values of 4 amino acids and 12 acylcarnitines from 141 neonatal screening laboratories,including laboratory coding,cut-off value,source of cut-off value,methodological principle,instrument,reagent,calibrator,modifying or not,were collected. The effects of different methods and sources of cut-off values on the 16 cut-off values were analyzed. Results A total of 114 laboratories submitted their data. Totally,70.18% laboratories' cut-off values were from reagent manufacturer's instructions,about 16% laboratories' cut-off values were determined by own laboratory,and about 14% laboratories' cut-off values were from literature reports. The proportion of laboratories with modified cut-off values was 49.12%-53.51%. The cut-off values had statistical significance between derivative method and non-derivative method（P<0.05）. The coefficient of variation of derivative method was distributed in 25.26%-172.05%,and the dispersion degree of unmodified tangent value was greater than that of modified tangent value. The coefficient of variation of non-derivative method was distributed in 18.15%-200.92%,and the unmodified tangent values were consistent with the dispersion degree of modified tangent values except low citrulline values. Conclusions There are differences in the cut-off value of tandem mass spectrometry in screening neonatal inherited metabolic diseases in China,and the cut-off value should be evaluated and validated regularly.

Key words: Neonatal inherited metabolic disease, Cut-off value, Amino acid, Acylcarnitine

CLC Number:

R446.1

HE Falin, LIN Bo, WANG Wei, ZHONG Kun, YUAN Shuai, DU Yuxuan, WANG Zhiguo. Investigation on the cut-off values of tandem mass spectrometry for neonatal inherited metabolic diseases in China[J]. Laboratory Medicine, 2020, 35(5): 487-491.

Figures/Tables 3

References 7

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指标	实验室数	百分比/%
瓜氨酸	58	50.88
苯丙氨酸	61	53.51
酪氨酸	58	50.88
亮氨酸	58	50.88
游离肉碱	56	49.12
丙酰肉碱	59	51.75
丁酰肉碱	60	52.63
异戊酰肉碱	60	52.63
戊二酰肉碱	61	53.51
3-羟基-异戊酰肉碱	59	51.75
辛酰肉碱	60	52.63
癸酰肉碱	60	52.63
十四烷酰希酰肉碱	60	52.63
棕榈酰肉碱	63	55.26
3-羟基-十六碳酰肉碱	60	52.63
十八碳酰肉碱	60	52.63

指标	实验室数	百分比/%
瓜氨酸	58	50.88
苯丙氨酸	61	53.51
酪氨酸	58	50.88
亮氨酸	58	50.88
游离肉碱	56	49.12
丙酰肉碱	59	51.75
丁酰肉碱	60	52.63
异戊酰肉碱	60	52.63
戊二酰肉碱	61	53.51
3-羟基-异戊酰肉碱	59	51.75
辛酰肉碱	60	52.63
癸酰肉碱	60	52.63
十四烷酰希酰肉碱	60	52.63
棕榈酰肉碱	63	55.26
3-羟基-十六碳酰肉碱	60	52.63
十八碳酰肉碱	60	52.63

指标	衍生法				非衍生法				P值
指标	P₂₅	P₅₀	P₇₅	变异系数/%	P₂₅	P₅₀	P₇₅	变异系数/%	P值
瓜氨酸低值	4.00	5.00	5.50	125.48	5.50	6.00	7.50	104.58	<0.05
瓜氨酸高值	31.50	40.00	40.00	32.93	30.00	38.00	41.00	60.53	<0.05
苯丙氨酸	119.00	120.00	120.00	25.26	100.00	101.00	116.00	18.26	<0.05
酪氨酸	200.00	200.00	250.00	34.14	253.00	268.90	309.00	22.47	<0.05
亮氨酸	250.00	255.00	300.00	26.08	270.00	295.00	330.00	33.18	<0.05
游离肉碱低值	8.60	10.00	11.00	142.14	9.00	9.50	10.00	97.62	<0.05
游离肉碱高值	60.00	80.00	80.00	38.25	50.00	53.70	57.50	27.56	<0.05
丙酰肉碱	5.00	5.00	5.00	35.19	4.00	4.20	4.70	20.73	<0.05
丁酰肉碱	0.53	0.60	0.62	41.57	0.45	0.50	0.50	26.38	<0.05
异戊酰肉碱	0.42	0.50	0.52	56.34	0.40	0.42	0.50	27.09	<0.05
戊二酰肉碱	0.20	0.20	0.30	99.51	0.20	0.27	0.30	47.74	<0.05
辛酰肉碱	0.20	0.24	0.34	79.22	0.15	0.18	0.24	60.32	<0.05
癸酰肉碱	0.25	0.30	0.50	85.03	0.22	0.25	0.30	49.45	<0.05
十四烷酰希酰肉碱	0.35	0.40	0.40	112.44	0.22	0.25	0.30	137.24	<0.05
棕榈酰肉碱	5.00	5.85	6.08	47.21	5.70	6.00	6.31	19.26	<0.05
十八碳酰肉碱	1.85	2.00	2.00	34.48	1.77	1.85	1.92	18.15	<0.05
3-羟基-异戊酰肉碱	0.60	0.60	0.61	51.29	0.40	0.45	0.57	30.90	<0.05
3-羟基-十六碳酰肉碱	0.09	0.10	0.10	172.05	0.05	0.06	0.06	200.92	<0.05

指标	衍生法				非衍生法				P值
指标	P₂₅	P₅₀	P₇₅	变异系数/%	P₂₅	P₅₀	P₇₅	变异系数/%	P值
瓜氨酸低值	4.00	5.00	5.50	125.48	5.50	6.00	7.50	104.58	<0.05
瓜氨酸高值	31.50	40.00	40.00	32.93	30.00	38.00	41.00	60.53	<0.05
苯丙氨酸	119.00	120.00	120.00	25.26	100.00	101.00	116.00	18.26	<0.05
酪氨酸	200.00	200.00	250.00	34.14	253.00	268.90	309.00	22.47	<0.05
亮氨酸	250.00	255.00	300.00	26.08	270.00	295.00	330.00	33.18	<0.05
游离肉碱低值	8.60	10.00	11.00	142.14	9.00	9.50	10.00	97.62	<0.05
游离肉碱高值	60.00	80.00	80.00	38.25	50.00	53.70	57.50	27.56	<0.05
丙酰肉碱	5.00	5.00	5.00	35.19	4.00	4.20	4.70	20.73	<0.05
丁酰肉碱	0.53	0.60	0.62	41.57	0.45	0.50	0.50	26.38	<0.05
异戊酰肉碱	0.42	0.50	0.52	56.34	0.40	0.42	0.50	27.09	<0.05
戊二酰肉碱	0.20	0.20	0.30	99.51	0.20	0.27	0.30	47.74	<0.05
辛酰肉碱	0.20	0.24	0.34	79.22	0.15	0.18	0.24	60.32	<0.05
癸酰肉碱	0.25	0.30	0.50	85.03	0.22	0.25	0.30	49.45	<0.05
十四烷酰希酰肉碱	0.35	0.40	0.40	112.44	0.22	0.25	0.30	137.24	<0.05
棕榈酰肉碱	5.00	5.85	6.08	47.21	5.70	6.00	6.31	19.26	<0.05
十八碳酰肉碱	1.85	2.00	2.00	34.48	1.77	1.85	1.92	18.15	<0.05
3-羟基-异戊酰肉碱	0.60	0.60	0.61	51.29	0.40	0.45	0.57	30.90	<0.05
3-羟基-十六碳酰肉碱	0.09	0.10	0.10	172.05	0.05	0.06	0.06	200.92	<0.05

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