Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency

详细信息    查看全文

• 作者：Manoj P Menezes ; Katherine O' ; Brien ; Mandy Hill ; Richard Webster ; Jayne Antony ; Robert Ouvrier ; Catherine Birman and Kirsty Gardner-Berry
• 刊名：Developmental Medicine & Child Neurology
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：58
• 期：8
• 页码：848-854
• 全文大小：92K
• ISSN：1469-8749

文摘

Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown–Vialetto–Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy.