Ontology highlight
ABSTRACT:
SUBMITTER: Zheng Z
PROVIDER: S-EPMC7388215 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Zheng Zhenzhu Z Yuan Gaopin G Zheng Minyan M Lin Yiming Y Zheng Faming F Jiang Mengyi M Zhu Lin L Fu Qingliu Q
BMC medical genetics 20200729 1
<h4>Background</h4>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.<h4>Case presentation</h4>In this paper, we report a Chinese Han pedigree with HLCS deficiency diagnosed by using next-generation sequencing and validated with Sanger sequencing of the HLCS and BTD genes. The Chinese proband carries the common missense mutation c. ...[more]