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Licensed Unlicensed Requires Authentication Published by De Gruyter December 19, 2019

Analysis of five cases of hypermethioninemia diagnosed by neonatal screening

Zhilei Zhang, Yanyun Wang, Dingyuan Ma, Wei Cheng, Yun Sun and Tao Jiang

Abstract

Background

Hypermethioninemia is a group of diseases with elevated plasma methionine (Met) caused by hereditary and non-hereditary factors, although it could also be caused by administration of the amino acid Met. Among these, the disease caused by methionine adenosyltransferase (MAT) I/III deficiency is the most common, and is characterized by persistent, isolated hypermethioninemia as well as slightly elevated homocysteine. S-adenosylmethionine is the product of Met, which can be used as a direct methyl donor of many substances, such as choline and nucleotide, and essential in the development of the body. Among the patients, most have no symptoms, and a small number have central nervous system complications with high levels of plasma Met, including mental retardation, cognitive impairment and special breathing odor.

Methods

In this study, five cases of MAT I/III deficiency were diagnosed and retrospectively analyzed among 220,000 newborns. Patients with high Met levels received a Met-restricted diet treatment.

Results and conclusions

MAT I/III deficiency is a common reason for Met elevation in neonatal screening by tandem mass spectrometry (MS/MS), which needs long-term follow-up except for these patients with explicitly benign mutations.


Corresponding authors: Yun Sun and Tao Jiang, Center of Genetic Medicine, The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Jiangsu, No. 123, Tianfei Xiang, Mochou Road, Nanjing, China, Phone: +13951621263 (Y. Sun); +13952001972 (T. Jiang)

Acknowledgments

This paper was completed in March, 2019. And I thank all participants.

  1. Author contributions: ZZL and SY conceptualized and designed the study, completed the experiment, led the review process and drafted the initial manuscript; SY reviewed all articles; WYY is responsible for the physical examination and follow-up of children; MDY is responsible for the genetic detection; and CW assisted to complete the experiment. All authors made substantial contributions to revising the manuscript. SY is responsible for the review and language editing. JT is responsible for the overall content. All authors read and approved the final manuscript.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

  6. Informed consent: Informed consent was obtained from all individual participants included in the study.

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Received: 2019-06-24
Accepted: 2019-10-14
Published Online: 2019-12-19
Published in Print: 2020-01-28

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