Side-effect-free detection device capable of being quantitatively dissolved with amino acid and carnitine in human blood

A detection device and amino acid technology, applied in the field of genetic metabolic disease detection, can solve the problems of simultaneous quantitative detection of amino acid and carnitine, inaccurate volume, low detection sensitivity, etc., to achieve rapid detection, avoid mutual interference, detection high precision effect

Pending Publication Date: 2020-12-11
JIANGSU FOOD & PHARMA SCI COLLEGE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The use of these diagnostic methods in IEM screening has limitations: (1) The general throughput is low, and generally only one to dozens of species can be detected at a time, which cannot meet the year-by-year increase in the number of diseases that can be detected by IEM. (2) The detection methods of different IEMs are different, and the samples are diverse. For example, some diseases detect protein levels, while others detect gene levels. Some diseases require urine samples, while others require blood sample
[0004] However, although there are some detection methods for amino acids and carnitine in the prior art, there are often large systematic errors (such as inaccurate volume caused by pipette deviation during transfer), low detection sensitivity, and difficult to detect. Simultaneous quantitative detection of amino acids and carnitine

Method used

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  • Side-effect-free detection device capable of being quantitatively dissolved with amino acid and carnitine in human blood
  • Side-effect-free detection device capable of being quantitatively dissolved with amino acid and carnitine in human blood

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Embodiment 1

[0056] By using the device described in the foregoing embodiment, more than 28,800 cases of neonatal blood samples in Zhejiang Province were detected, and a total of 12 cases of methylmalonic acidemia / propionic acidemia and 8 cases of hyperphenylalaninemia were detected. Cases, 4 cases of maple syrup urine disease, 6 cases of citrullinemia and so on.

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Abstract

The invention relates to a side-effect-free detection device capable of being quantitatively and dissolved with an amino acid and carnitine in human blood. The detection device comprises a kit provided with a plurality of container holes, a porous reaction plate and liner layers, wherein an amino acid isotope standard substance, an acyl carnitine isotope standard substance, an elution solution bottle, a derivatization solution bottle, an extraction solution bottle, a redissolution solution bottle and a mobile phase bottle are placed in each container hole; the porous reaction plate includes aplurality of reaction holes; and the liner layers are arranged at the top of the kit and the bottom of the porous reaction plate. And a detection device instruction for use is included. According to the technical scheme, the side effects of mutual interference, a false detection rate and the like in a detection process are avoided.

Description

technical field [0001] The invention relates to the field of detection of hereditary metabolic diseases, and more specifically relates to a detection device for quantitative detection of amino acids and carnitine in human blood by using gas chromatography and mass spectrometry in series under the condition of mutual dissolution. Background technique [0002] Hereditary metabolic diseases are caused by genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps composed of polypeptides and (or) proteins that are necessary to maintain the normal metabolism of the body, that is, mutations in the genes encoding such polypeptides (proteins) resulting in diseases. It includes amino acid and carnitine genetic metabolic diseases. [0003] After the onset of such diseases, they often show progressive aggravation. If early identification, diagnosis, intervention, and treatment are not carried out, they often lead to early death or permanent disabili...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G01N30/02G01N30/06
CPCG01N30/02G01N30/06G01N2030/045
Inventor 马宇春朱玉洁
Owner JIANGSU FOOD & PHARMA SCI COLLEGE
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