Startseite Newborn screening for inborn errors of metabolism in a northern Chinese population
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Newborn screening for inborn errors of metabolism in a northern Chinese population

  • Genxian Liu EMAIL logo , Xingying Liu und Yiming Lin EMAIL logo
Veröffentlicht/Copyright: 20. Januar 2023
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 36 Heft 3

Abstract

Objectives

Newborn screening (NBS) for inborn errors of metabolism (IEMs) has been successfully implemented in China. However, the data on the IEM profiles in many regions are lacking. This study aimed to report the incidence, disease spectrum, and genetic profile of IEMs in northern China.

Methods

A total of 36,590 newborns were screened using tandem mass spectrometry between January 2016 and April 2022. Newborns with positive results were referred for confirmatory testing.

Results

Ten patients were confirmed to have IEMs, with an overall incidence of 1:3,539 in the Rizhao region. Five types of IEMs were detected, including four patients with propionic acidemia (PA), three patients with methylmalonic acidemia (MMA), one of each with citrin deficiency, primary carnitine deficiency, and isobutyryl-CoA dehydrogenase deficiency. PA was the most common IEM, with an unexpectedly high incidence of 1:8,848, followed by MMA, with an incidence rate of 1:11,797. All patients had abnormal screening markers and harbored biallelic variants in their respective causative genes. Two novel PCCB variants (c.505G>A and c.1123_1124insG) were identified in patients with PA. In silico analyses predicted that these two variants were potentially pathogenic.

Conclusions

This study preliminarily clarified the incidence, disease spectrum, and genetic profile of IEMs in the Rizhao region. PA is the most common IEM and MMA is the second most common in our region. The two novel identified PCCB variants further expand the variant spectrum of PA. More attention should be paid to NBS, early diagnosis, and management of PA and MA.

Keywords: inborn errors of metabolism; methylmalonic acidemia; newborn screening; propionic acidemia; tandem mass spectrometry
Corresponding authors: Genxian Liu, Center of Medical Genetics, Rizhao Maternal and Child Health Care Hospital, 28 Weihai Road, 276800 Rizhao, Shandong Province, P.R. China, E-mail: ; and Yiming Lin, Center of Neonatal Disease Screening, Quanzhou Maternity and Children’s Hospital, 700 Fengze Street, 362000 Quanzhou, Fujian Province, P.R. China, E-mail:

Acknowledgments

We thank all the participants for their help and support. We would like to thank Editage (www.editage.cn) for English language editing.

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Written informed consent was obtained from the parents of all the patients.

  5. Ethical approval: This study was approved by the Ethical Committee of Rizhao Maternity Hospital.

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2022-0543).

Received: 2022-10-23
Accepted: 2023-01-02
Published Online: 2023-01-20
Published in Print: 2023-03-28

© 2023 Walter de Gruyter GmbH, Berlin/Boston

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  17. Using change in predicted adult height during GnRH agonist treatment for individualized treatment decisions in girls with central precocious puberty
  18. Short Communications
  19. Long-term experience with the use of a single histrelin implant beyond one year in patients with central precocious puberty
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  21. Case Reports
  22. Hyperthyroidism in McCune–Albright Syndrome – a case report
  23. Sexual precocity in the setting of parental use of a compounded testosterone cream: case report and review of the literature
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https://doi.org/10.1515/jpem-2022-0543
Schlagwörter für diesen Artikel
inborn errors of metabolism; methylmalonic acidemia; newborn screening; propionic acidemia; tandem mass spectrometry

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Thyroid – what is a healthy thyroid function test?
  4. Review
  5. Thyroid storm in pediatrics: a systematic review
  6. Opinion Paper
  7. DSD/intersex: historical context and current perspectives
  8. Original Articles
  9. Predictive value of 6 h postoperative parathyroid hormone level on permanent hypoparathyroidism in pediatric total thyroidectomy: a pilot study
  10. Evaluation of a nurse-led counselling intervention on selected outcome variables for parents of children with congenital adrenal hyperplasia
  11. The relationship between estrogen and subsequent growth restriction among adolescents with heavy menstrual bleeding at menarche
  12. An open-label extension of a phase 2 dose-finding study of once-weekly somatrogon vs. once-daily Genotropin in children with short stature due to growth hormone deficiency: results following 5 years of treatment
  13. Normal bone density but altered geometry in girls with Turner syndrome
  14. Newborn screening for inborn errors of metabolism in a northern Chinese population
  15. Evaluation of serum telomerase activity in normal-weight young girls with polycystic ovary syndrome and its relation to metabolic parameters
  16. Early onset of puberty during COVID-19 pandemic lockdown: experience from two Pediatric Endocrinology Italian Centers
  17. Using change in predicted adult height during GnRH agonist treatment for individualized treatment decisions in girls with central precocious puberty
  18. Short Communications
  19. Long-term experience with the use of a single histrelin implant beyond one year in patients with central precocious puberty
  20. Relationships among biochemical measures in children with diabetic ketoacidosis
  21. Case Reports
  22. Hyperthyroidism in McCune–Albright Syndrome – a case report
  23. Sexual precocity in the setting of parental use of a compounded testosterone cream: case report and review of the literature
  24. Intracardiac thrombosis following intravenous zoledronate treatment in a child with steroid-induced osteoporosis
  25. Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance
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