Incidence of inborn error of metabolism from newborn screening with Tandem mass spectrometry
Keywords:Inborn error of metabolism, incidence, newborn screening, rare diseases
Background: Inborn error of metabolism, from newborn screening with Tandem mass spectrometry, is a group of diseases due to abnormal metabolism of amino acids and fatty acids. These are autosomal recessive genetic disorders which are rare diseases. The incidence of these disorders in the worldwide ranges from 1 in 3,000 - 10,000.Objective: To determine the incidence of inborn error of metabolism from newborn screening with Tandem mass spectrometry in Thai population.Methods: A retrospective study by reviewing data from newborn screening at the laboratory in Queen Sirikit National Institute of Child Health in the year 2020 were done. Results: The total number of children who had the newborn screening done during ten months was 15,421. There were two children with the abnormal test. After confirmation tests, one child was diagnosed with primary carnitine deficiency, and the other child was diagnosed with maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency. The incidence of inborn error of metabolism from this study was 1:15,421.Conclusion: The incidence of inborn error of metabolism from this study is lower than other studies. Further study in larger population is needed to determine the accurate incidence of Thai population.
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