Kit and method for detecting related substances of genetic metabolic diseases by non-derivative tandem mass spectrometry

Abstract

The application discloses a kit and a method for detecting related substances of genetic metabolic diseases by non-derivative tandem mass spectrometry. The kit comprises a mixed isotope internal standard substance and a quality control substance. The mixed isotope internal standard substance comprises isotope standard substances of genetic metabolic disease related substances of amino acids, carnitine, ketones, lysophosphatidylcholine, guanidinoacetic acid, creatine, adenosine and deoxyadenosine; and the quality control substance is a whole blood sample containing a quality control analyte ofthe genetic metabolic disease related substance with known concentration. The kit can detect related substances of genetic metabolic diseases of amino acids, carnitines, ketones, lysophosphatidylcholines, guanidinoacetic acid, creatine, adenosine and deoxyadenosine and thus the types of detection of related substances for genetic metabolic diseases are increased, so that screening or auxiliary screening of more metabolic diseases can be carried out in one experiment, and the use requirements of screening of the newborn genetic metabolic diseases are better met.

Description

technical field [0001] The present application relates to the field of detection of genetic metabolic diseases, in particular to a kit and method for detecting substances related to genetic metabolic diseases by non-derivative tandem mass spectrometry. Background technique [0002] Inherited metabolic diseases (IMD), also known as inborn errors of metabolism (IEM), refer to enzyme defects, abnormal cell membrane function or receptor defects caused by gene mutations, which lead to biochemical metabolic disorders in the body. Accumulation of intermediate or bypass metabolites, or lack of terminal metabolites, a group of diseases that cause a series of clinical symptoms, mostly onset in childhood, with progressive aggravation, irreversible nervous system damage, and even death. Newborn disease screening can provide a good opportunity for early detection of congenital genetic metabolic diseases, early preventive intervention and slow down the disease process. Early screening fo...

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Problems solved by technology

[0008] Both international and domestic detection methods and assay kits have the following deficiencies: 1. Only some amino acids, carnitine and succinylacetone can be detected at one time, and the types of diseases that can be screened are limited; 2. For congenital genetic metabolism Diseases: X-linked adrenoleukodystrophy (X-ALD), creatine deficiency syndrome (CDS)-GAMT deficiency, and neonatal severe combined immunodeficiency disease (ADA-SCID). It can be tested at the same time, but it needs to be sampled separately, and it needs to be tested twice. However, one more blood collection may cause physical and mental impact on the subject

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