Incidence of inborn error of metabolism from newborn screening with Tandem mass spectrometry

Authors

  • Chulaluck Kuptanon , M.D. Queen Sirikit National Institute of Child Health
  • Pon Singhamatr, B.Sc. Queen Sirikit National Institute of Child Health
  • Kulayaporn Peeramontree , B.Sc. Queen Sirikit National Institute of Child Health
  • Suphaphon Somnuk, B.Sc. Queen Sirikit National Institute of Child Health
  • Khwanruan Tapaothong , B.Sc. Queen Sirikit National Institute of Child Health
  • Siwaporn Puchchoto, B.Sc. Queen Sirikit National Institute of Child Health
  • Dueanchai khata, B.Sc. Queen Sirikit National Institute of Child Health

Keywords:

Inborn error of metabolism, incidence, newborn screening, rare diseases

Abstract

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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References

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Published

31-03-2022

How to Cite

1.
Kuptanon C, Singhamatr P, Peeramontree K, Somnuk S, Tapaothong K, Puchchoto S, khata D. Incidence of inborn error of metabolism from newborn screening with Tandem mass spectrometry. j dept med ser [Internet]. 2022 Mar. 31 [cited 2022 Oct. 7];47(1):103-7. Available from: https://he02.tci-thaijo.org/index.php/JDMS/article/view/252282

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Original Article