Method for screening out inherited metabolic disease of newborn

A metabolic disease and neonatal technology, applied in the field of clinical medicine, can solve the problems of inaccurate diagnosis of neonatal hereditary metabolic diseases, and achieve the effects of improving the diagnostic efficiency, accurate diagnostic results, and reducing the misdiagnosis rate.

Inactive Publication Date: 2017-08-11
广州华康基因医学科技有限公司
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  • Abstract
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Problems solved by technology

[0003] In order to overcome the deficiencies of the prior art, the purpose of the present invention is to provide a newborn

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  • Method for screening out inherited metabolic disease of newborn
  • Method for screening out inherited metabolic disease of newborn

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Embodiment Construction

[0018] Below, in conjunction with accompanying drawing and specific embodiment, the present invention is described further:

[0019] refer to figure 1 with figure 2 In this embodiment, a method for screening newborn genetic metabolic diseases includes the following steps:

[0020] Step 1: Store the disease symptom data and index data of the existing genetic metabolic diseases into the database, and establish a medical database according to the database; the existing genetic metabolic diseases include amino acid metabolic diseases (such as maple syrup urine disease, hyperthyroid Thioninemia, tyrosinemia, hyperphenylalaninemia, urea cycle disorders, etc.), fatty acid metabolism diseases (such as carnitine deficiency, short-chain acyl-CoA dehydrogenase deficiency, carnitine palmitate Acyltransferase deficiency type Ⅰ, carnitine palmitoyltransferase deficiency type Ⅱ), organic acid metabolism diseases (methylmalonic acidemia, propionic acidemia, isovaleric acidemia, glutaric ac...

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Abstract

The invention discloses a method for screening out an inherited metabolic disease of a newborn. The method comprises the steps of storing disease condition symptom data and index data of existing inherited metabolic disease in a database, and establishing a medical database according to the database; collecting a detection sample of the newborn, and importing the detection sample into the medical database; and comparing the detection sample with the index data in the medical database, and judging whether the detection sample is matched with the index data in the medical database or not. By performing comparative matching on the detection sample of the newborn and the existing data in the established medical database, the inherited metabolic disease related to the newborn can be quickly screened out and an examination report in a text format is generated; and the data can assist in diagnosis of doctors, so that the misdiagnosis rate of the doctors is reduced, the diagnosis efficiency of the doctors is improved, and a diagnosis result is more accurate.

Description

technical field [0001] The invention relates to the field of clinical medicine, in particular to a method for screening newborn genetic metabolic diseases. Background technique [0002] In recent years, the number of newborn patients with genetic metabolic diseases is on the rise every year in my country. Therefore, the requirements and demands for the diagnosis of genetic metabolic diseases in newborns are getting higher and higher. Only accurate diagnosis and timely treatment can make newborns free children from the pain of disease. Neonatal inherited metabolic diseases (inherited metabolic diseases, IMD) is an important part of birth defects, most of which are monogenic diseases (autosomal recessive inheritance). However, the existing diagnosis of neonatal genetic metabolic diseases is judged by doctors based on the results of equipment inspections. Due to the differences in the experience of doctors, it is inevitable that there will be errors in diagnosis, resulting in i...

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Application Information

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IPC IPC(8): G06F19/00
CPCG16H50/70
Inventor 郝虎冯明红文丰良
Owner 广州华康基因医学科技有限公司
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