Article
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
Molecular genetics & genomic medicine - 1 Feb 2021
Geng Jia, Sun Yi, Zhao Yi, Xiong Wenyu, Zhong Mingjun, Zhang Yajuan, Zhao Qiuling, Bao Zhongwei, Cheng Jing, Lu Yu, Yuan Huijun
Abstract excerpt
BACKGROUND: Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin-dependent carboxylase functions. METHODS: A Chinese patient with spontaneous recurrent epilepsy, an eczema-like rash, hair loss, hypotonia, and hearing loss began at three months of age....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.