Evidence map›Paper›PMID 39780260›Full record

ArticleOrphanet journal of rare diseases2025

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.

Zhilei Zhang, Xin Wang, Jingjing Zhang, Xianwei Guan, Yanyun Wang, Dongyang Hong, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang

Abstract read
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In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Zhilei ZhangNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Xin WangNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Jingjing ZhangNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Xianwei GuanNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Yanyun WangNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Dongyang HongNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Yahong LiNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Peiying YangNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China.
Yun SunNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China. sunyun80@126.com.
Tao JiangNanjing Women and Children's Healthcare Hospital, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital With Nanjing Medical University, No.123, Tianfei Xiang, Mochou Road, Nanjing, Jiangsu, China. jiangtao6310@163.com.ORCID http://orcid.org/0000-0002-9486-1615

Funding

National Natural Science Foundation of China 82202065
6 · The paper itself

Abstract

backgroundOrnithine transcarbamylase deficiency exhibits a high degree of clinical heterogeneity, making its screening and classification challenging in some instances. In this study, we first established a simple and stable method for testing ornithine transcarbamylase activity using micro blood from newborns, rather than relying on venous blood.

methodsThe activity of ornithine transcarbamylase was assessed by measuring the concentration of citrulline produced in the reaction with carbamoyl phosphate and ornithine, using serum, plasma or micro blood. Correlation analysis was evaluated using Sangerbox Tools. The Receiver Operating Characteristic curve was used in SPSS Statistics 17.0 to evaluate the diagnostic efficiency of Ornithine transcarbamylase deficiency.

resultsA strong linear relationship was observed between ornithine transcarbamylase activity and both micro blood volume and reaction time (R

conclusionsWe pioneered a method for testing OTC activity that normally carried on venous blood can be effectively performed on microblood heel samples. Meanwhile, our method presents a simpler, more stable and reproducible approach compared to colorimetry.

Indexed as

Ornithine CarbamoyltransferaseOrnithine Carbamoyltransferase Deficiency DiseaseFemaleHumansInfant, NewbornMaleROC CurveOrnithine CarbamoyltransferaseCitrullineMicro bloodNewbornsOrnithine transcarbamylase activityOrnithine transcarbamylase deficiencyTandem mass spectrometry

Identifiers

PMID39780260
PMCPMC11708073

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LicenceCC BY
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.