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

• Main Authors: Zhenzhu Zheng (Author), Gaopin Yuan (Author), Minyan Zheng (Author), Yiming Lin (Author), Faming Zheng (Author), Mengyi Jiang (Author), Lin Zhu (Author), Qingliu Fu (Author)
• Format: Book
• Published: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...