The applications of mass spectrometry in inherited metabolic diseases and prenatal diagnosis / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
; (12): 761-765, 2017.
Article
in Zh
| WPRIM
| ID: wpr-667431
Responsible library:
WPRO
ABSTRACT
The application of mass spectrometry(MS)in the detection of inherited metabolic diseases including the following two aspects.The tandem mass spectrometry(MS/MS)technology is applied to detect small molecules(such as amino acid, acyl carnitine, fragments of steroid hormones and lysosomalmetabolites)of dried blood specimens,thus to screen and diagnose relevant diseases.Meanwhile, the gas chromatographic mass spectrometry(GC/MS)is used to test urine organic acid, thus to diagnose organic acidemia, and assist in the diagnosis of amino acid metabolic diseases and fatty acid oxidative diseases.MS has currently been widely used as the main method for screening newborn with these amino acids,organic acids and fatty acids oxidative metabolic diseases.For the newborn screening of adrenal and lysosomal disorders,MS has been used only in several countries.Furthermore, MS could also be used to perform prenatal diagnosis of organic acidemia through detecting acyl carnitine and organic acid in amniotic fluid.
Full text:
1
Database:
WPRIM
Type of study:
Diagnostic_studies
Language:
Zh
Journal:
Chinese Journal of Laboratory Medicine
Year:
2017
Document type:
Article