In 2019, * issued the "Healthy China Action Plan (2019-2030)", which focuses on disease prevention and health promotion, and proposes to carry out 15 major special actions. Among them, the "Maternal and Child Health Promotion Action" mainly provides recommendations for maternal and child health promotion at various stages such as pre marriage, pre pregnancy, pregnancy, newborn, and early childhood. The screening of rare diseases in newborns will receive greater attention.

X-linked adrenal leukodystrophy (ALD) is a lipid metabolism disorder caused by abnormal function of peroxisomes, and belongs to genetic metabolic diseases. The main clinical manifestations are progressive demyelinating lesions in the white matter of the brain and adrenal cortex dysfunction.

This disease is relatively rare and has a poor prognosis. It is mainly characterized by auditory and visual impairment, decreased intelligence, abnormal behavior, and movement disorders. among which95% of patients are male, while females are mostly heterozygous and carriers of disease gene mutations. On May 11, 2018, the disease was included in the "Rare Disease Catalogue" jointly formulated by the Health Commission and five other departments.

How to screen ALD quickly?

With the continuous development of tandem mass spectrometry screening technology, accurate quantification of four lysophosphatidyls in dried blood spots can be achieved*

（lysophosphatidylcholine，LPC）：

Twenty carbon lysophosphatidyl*（C20:0 LPC）

22 carbon lysophosphatidyl*（C22:0 LPC）

24 carbon lysophosphatidyl*（C24:0-LPC）

Twenty six carbon lysophosphatidyl*（C26:0 LPC）

Can quickly screen and diagnoseALD， Early treatment such as dietary control, steroid replacement, and hematopoietic stem cell transplantation can prevent intellectual, mental, and motor developmental delays and adrenal cortex dysfunction in children.

ShimadzuALD screening program

SHIMADZU CorporationThe ALD screening program uses Shimadzu Clinical Mass Spectrometry LCMS-8050 CL and X-linked Adrenocerebral White Matter Malnutrition Screening and Diagnostic Kit (Mass Spectrometry Biotechnology Co., Ltd.) paired with Shimadzu Neonatal Genetic Metabolic Disease Screening Software. By measuring four diagnostic markers of ALD, lysophosphatidyl *, ALD can be quickly and accurately screened. The injection volume of this program is only 1 µ L, reducing instrument contamination; The analysis time for each sample is only 60 seconds, which maximizes the flux; The powerful data processing function of the Neonatal genetic metabolic disease screening software can match multiple genetic metabolic disease screenings, and the data processing operation for ALD screening is simple,No need to process raw data one by one, the software makes the analysis results clear at a glanceThe software has a built-in quality control management system,Quality control information can be viewed at any time.

Shimadzu Clinical Mass SpectrometryNeonatural genetic metabolic disease screening software

A comprehensive newborn disease screening program enablesALD screeningMake it simpler

Shimadzu has a comprehensive newborn disease screening program and a mature sample pre-processing process, which can not only cope with basic newborn screening, but also with advanced screening such asALD screening and NBSgamt screening can be perfectly matched.

LCMS-8050 CL ensures excellent performance, sensitivity, and stability

Shimadzu Clinical Mass SpectrometryThe LCMS-8050 CL has the industry's fastest scanning speed and shorter positive and negative electrode switching time, which ensures data sensitivity and stability. The signal-to-noise ratio can reach 500000, meeting the accurate measurement of lysophosphatidylls (LPC) in babies.

Low concentration quality control, high concentration quality control, and normal newborn dry blood spot determination spectrum

Continuous injection analysis of low quality control dried blood sampleThe RSD of six injections and four types of lysophosphatidyls * ranged from 1.2% to 3.6%, indicating good instrument precision and meeting clinical measurement requirements.

Precision inspection data（n=6）

professionalNeonatural genetic metabolic disease screening software provides intelligent data analysis and real-time quality control

The powerful functions of the Neonatural genetic metabolic disease screening software can adapt to various screening experiment data processing. The software automatically performs batch data processing, saving time and avoiding human errors. The setting of cut-off values makes the positive and negative results clear at a glance, making data processing easy.

Application of tandem mass spectrometryALD screening has been widely used. In 2016, the American Society of Medical Genetics proposed to include ALD in the core disease spectrum for newborn screening after evaluation. Currently, several states in the United States have legislated to carry out this screening.

The state of New York in the United States has established a comprehensive set of guidelines for disease diagnosis, monitoring, and treatment, and has implemented them for all newbornsALD screening, screening 365000 newborns within 18 months, using MS/MS technology to detect LPC and other related indicators in their filter paper dried blood samples. All exons of ABCD1 gene in screened positive children were sequenced, and a total of 33 ALD children were diagnosed, including 13 male children, 13 female heterozygous children, and 7 other peroxisome disease children.

Application of tandem mass spectrometryALD screening has the advantages of low blood collection volume, fast analysis speed, low false positive rate, and high specificity. In the future, it will obtain a wider spectrum.

All forThe Shimadzu newborn screening solution for the health of humanity and the earth allows rare diseases to be exposed, and we work together to wait for your baby's healthy growth!