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Method and kit for detecting amino acid, carnitine, ketone and hormone at same time

An amino acid and kit technology, applied in the field of detection of substances related to genetic metabolic diseases, can solve problems such as environmental pollution and pollution, and achieve the effects of avoiding pollution, improving detection efficiency, and avoiding pain or psychological shadows.

Inactive Publication Date: 2018-05-08
SHENZHEN HUADA GENE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0007] B. The derivatization route for newborn screening requires the use of acid chlorides, which will pollute the environment;
[0008] C. When detecting amino acid and carnitine-related diseases and congenital adrenal hyperplasia, the examinee needs to collect blood twice, which may cause one more psychological shadow

Method used

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  • Method and kit for detecting amino acid, carnitine, ketone and hormone at same time
  • Method and kit for detecting amino acid, carnitine, ketone and hormone at same time
  • Method and kit for detecting amino acid, carnitine, ketone and hormone at same time

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Embodiment

[0041] The kit for this example includes the following components individually packaged:

[0042] (A) Amino acid isotope internal standard, 1 bottle, a total of about 17g; wherein, by the same amount of L-d 4 -Alanine, L-d 8 -Valine (L- 2 h 8 -Val), L-d 3 -Leucine (L- 2 h 3 -Leu), L-d 3 -Methionine (L- 2 h 3 -Met), L- 13 C 6 -Phenylalanine (L- 13 C 6 -Phe), L- 13 C 6 -Tyrosine (L- 13 C 6 -Tyr), L-d 2 -Citrulline (L- 2 h 2 -Cit), L-d 2 -Ornithine (L- 2 h 2 -Orn) and L-d 4 ;5- 13 C-Arginine (L- 2 h 4 ;5- 13 C-Arg) composition; The concentration of each amino acid internal standard substance above is 500nmol / mL;

[0043] (B) Carnitine isotope internal standard, 1 bottle, about 16.8g in total; among them, the L-d of 152nmol / mL 9 -Free carnitine (L- 2 h 9 -C0), L-d of 38nmol / mL 3 -Acetylcarnitine (L- 2 h 3 -C2), L-d of 7.6nmol / mL 3 -Propionylcarnitine (L- 2 h 3 -C3), L-d of 7.6nmol / mL 3 -Butyrylcarnitine (L- 2 h 3 -C4), L-d of 7.6nmol / mL 9 - ...

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Abstract

The invention discloses a method and kit for detecting amino acid, carnitine, ketone and hormone at the same time. The method comprises the following steps: incubating a to-be-detected blood spot sample by using an extracting working liquid; and centrifuging, taking supernatant and detecting the supernatant by using tandem mass spectrum to acquire amino acid, carnitine, ketone and hormone information, wherein the extracting working liquid comprises an amino acid isotope internal standard product, a carnitine isotope internal standard product, a 17alpha hydroxyprogesterone isotope internal standard product, a succinyl acetone isotope internal standard product and an organic solvent. By the method provided by the invention, the four substances such as amino acid, carnitine, ketone and hormone can be detected simultaneously only by one-time blood collection, so that the labor cost is reduced and the influence on the body and mind of a to-be-detected person by multi-time blood collection is avoided. By the method, 13 kinds of amino acid, 32 kinds of carnitine, 1 kind of hormone and 1 kind of ketone are detected quantitatively at a time, 46 inherited metabolic diseases can be screened according to the indexes, and the screening efficiency of the inherited metabolic diseases of newborns is improved.

Description

technical field [0001] This application relates to the field of detection of substances related to genetic metabolic diseases, in particular to a method and kit for simultaneous detection of amino acids, carnitine, ketones, and hormones. Background technique [0002] Hereditary metabolic diseases are diseases that cause metabolic dysfunction due to genetic material mutations, which lead to a series of clinical symptoms, involving the metabolism of amino acids, carnitine, vitamins, steroids and other substances. According to statistics, there are 400,000 to 500,000 newborns with genetic metabolic diseases in my country every year. Early detection, intervention and treatment of genetic metabolic diseases can avoid and reduce the harm and impact of diseases on children and their families. [0003] Existing screening techniques for neonatal metabolic diseases include bacterial inhibition, enzyme-linked immunoassay, and fluorescence methods, but these methods can only screen one ...

Claims

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Application Information

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IPC IPC(8): G01N30/02G01N30/72
CPCG01N30/02G01N30/72G01N2030/027
Inventor 陈晓敏王远张秋韵卢鹏飞高新彦饶维桥林梁
Owner SHENZHEN HUADA GENE INST
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