Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

Abstract Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case presentation In this paper, we report a Chinese Han pedig...

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Bibliographic Details
Main Authors: Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu
Format: Article
Language:English
Published: BMC 2020-07-01
Series:BMC Medical Genetics
Subjects:
HLCS deficiency
Case report
Arg508Trp
Frameshift mutation
Hearing damage
Online Access:http://link.springer.com/article/10.1186/s12881-020-01080-4

Internet

http://link.springer.com/article/10.1186/s12881-020-01080-4

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