Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence-Reference-Cited by-同舟云学术

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Published:2020-01-08 Issue:1 Volume:52 Page:3-10
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Schwahn Bernd C.¹^ORCID,Scheffner Thomas²,Stepman Hedwig³,Verloo Peter⁴,Das Anibh M⁵,Fletcher Janice⁶,Blom Henk J⁷,Benoist Jean‐Francois⁸,Barshop Bruce A.⁹,Barea Jaime J.⁹,Feigenbaum Annette⁹

Affiliation:

1. Willink Metabolic Unit, Manchester Centre for Genomic Medicine Manchester University Hospitals NHS Foundation Trust Manchester UK

2. Klinikum am Steinenberg, Klinik für Kinder und Jugendmedizin School of Medicine University of Tübingen Reutlingen Germany

3. Laboratory for Metabolic diseases Ghent University Hospital Ghent Belgium

4. Department of Pediatric Neurology and Metabolic Diseases University Hospital Ghent Ghent Belgium

5. Medizinische Hochschule Hannover Klinik für Pädiatrische Nieren‐, Leber‐ und Stoffwechselerkrankungen Hannover Germany

6. Genetics and Molecular Pathology SA Pathology Adelaide Australia

7. Metabolic Unit, Department of Clinical Genetics Center for Lysosomal and Metabolic Diseases. Erasmus Medical Center Rotterdam The Netherlands

8. Service de Biochimie Hormonologie Hôpital Robert Debré, APHP Paris France

9. Department of Pediatrics, Division of Biochemical Genetics, Rady Children's Hospital‐San Diego University of California San Diego California

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12092

Reference36 articles.

1. Adverse Event Associated With Methionine Loading Test

2. Hypermethioninemias of genetic and non-genetic origin: A review

3. Characteristic MR imaging changes in severe hypermethioninemic states;Braverman NE;Am J Neuroradiol,2005

4. Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

5. Still another case of hypermethioninemia in children: S‐adenosylmethionine synthetase deficiency;Gout JP;Arch Fr Pediatr,1997

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers;Cell Host & Microbe;2024-02

2. Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances;Disease Models & Mechanisms;2023-11-01

3. Paracetamol toxicity in classic homocystinuria: Effect of N‐acetylcysteine on total homocysteine;JIMD Reports;2023-03-03

4. Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature;Children;2023-02-17

5. Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial;Orphanet Journal of Rare Diseases;2022-11-14