Jump to ContentJump to Main Navigation
Show Summary Details
More options …

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2016: 1.233

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
Source Normalized Impact per Paper (SNIP) 2016: 0.602

Online
ISSN
2191-0251
See all formats and pricing
More options …
Volume 24, Issue 9-10 (Oct 2011)

Issues

Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease

Jian Wang
  • Department of Laboratory Medicine, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China
  • These authors contributed equally to this work and should be considered as co-first authors.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Hongjing Liu
  • Department of Laboratory Medicine, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China
  • These authors contributed equally to this work and should be considered as co-first authors.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Guoqiang Chen
  • Department of Laboratory Medicine, People’s Hospital of Zhejiang Province, Hangzhou, P.R. China
  • These authors contributed equally to this work and should be considered as co-first authors.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Sian Hsiang-Te Tsuei / Tingting Yu
  • Department of Laboratory Medicine, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Qihua Fu
  • Department of Laboratory Medicine, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2011-08-11 | DOI: https://doi.org/10.1515/JPEM.2011.278

Abstract

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. Mutations in the BCKDHA, BCKDHB, and DBT gene impair the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, resulting in the accumulation of branched-chain amino acids and branched-chain alpha-ketoacid in tissues and plasma. This leads to mental and physical retardation, feeding problems, and a maple syrup odor in the urine. In this study, we describe the clinical and biochemical manifestations of a sporadic mutation in a neonate with classic MSUD. Analysis of the BCKDHA gene revealed a compound heterozygous mutation consisting of two novel missense mutations (p.L103P and p.R265P). Viewing the protein with PyMOL indicated that the p.L103P and p.R265P mutations were, respectively, located in the helical region and core domains of the BCKD’s E1a component. The p.L103P mutation affected the hydrophobic cores and is predicted to shorten the helix; the p.R265P mutation can predictably affect the cofactor binding site by ligating the associated manganese ion. In conclusion, we identified two novel missense mutations in the BCKDHA gene in a Chinese patient with MSUD.

Keywords: BCKDHA; maple syrup urine disease; mutation analysis

About the article

Corresponding author: Dr. Qihua Fu, Department of Laboratory Medicine, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Rd., Shanghai 200127, P.R. China Phone: +86 21 38625568, Fax: +86 21 58756923


Received: 2011-05-16

Accepted: 2011-07-05

Published Online: 2011-08-11

Published in Print: 2011-10-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/JPEM.2011.278.

Export Citation

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Nan Yang, Lianshu Han, Xuefan Gu, Jun Ye, Wenjuan Qiu, Huiwen Zhang, Zhuwen Gong, and Yafen Zhang
Molecular Genetics and Metabolism, 2012, Volume 106, Number 4, Page 412
[2]
Yue-Ping Wang, Man-Long Qi, Ting-Ting Li, and Yun-Jing Zhao
Gene, 2012, Volume 498, Number 1, Page 112

Comments (0)

Please log in or register to comment.
Log in