Analysis of gas chromatography-mass spectrometry detection results of 1203 infants at high-risk of inherited metabolic diseases in some regions of Gansu province
Objective The screening results of gas chromatography-mass spectrometry for infants at high-risk of in-herited metabolic diseases in some regions of Gansu province in 11 years,from 2008 to 2018,were analyzed,so as to under-stand the characteristics of infants at high-risk of inherited metabolic diseases and to provide theoretical basis for early detec-tion,early diagnosis and early treatment.Methods The clinical data of 1203 infants at high-risk of inherited metabolic diseases in some regions of Gansu province from 2008 to 2018 were collected and analyzed.Results There were 823 cases of abnormal test re-sults in this study,with a positive rate of 68.41% .A total of 185 cases of inherited metabolic diseases were diagnosed,with a diagnosis rate of 15.38% .A total of 12 types of inherited metabolic diseases were detected,of which hyperphenylalaninemia was the most com-mon,accounting for 61.08% ,followed by methylmalonic acidemia,accounting for 20.00% .The onset age is most common in infants and young children,with neurological manifestations being the most common clinical features.Conclusion The incidence rate of in-herited metabolic diseases in infants at high-risk of the diseases in some regions of Gansu province is high,mainly hyperphenyla-laninemia.It can occur in various age groups,with the most common symptoms occurring during infancy and particularly prominent neurological manifestations.Irreversible damage to the body usually occurs at the time of diagnosis,so strengthening tertiary preven-tion is crucial.
Gansu provinceinherited metabolic diseasesinfants at high-riskgas chromatography-mass spec-trometry
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