Jaeger Bregje, Bosch Annet M
Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
J Inherit Metab Dis. 2016 Jul;39(4):559-64. doi: 10.1007/s10545-016-9924-2. Epub 2016 Mar 14.
Riboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain. In 2010 it was demonstrated that mutations in the riboflavin transporter genes SLC52A2 (coding for RFVT2) and SLC52A3 (coding for RFVT3) cause a neurodegenerative disorder formerly known as Brown-Vialetto-Van Laere (BVVL) syndrome, now renamed to riboflavin transporter deficiency. Five years after the diagnosis of the first patient we performed a review of the literature to study the presentation, treatment and outcome of patients with a molecularly confirmed diagnosis of a riboflavin transporter deficiency.
A search was performed in Medline, Pubmed using the search terms 'Brown-Vialetto-Van Laere syndrome' and 'riboflavin transporter' and articles were screened for case reports of patients with a molecular diagnosis of a riboflavin transporter deficiency.
Reports on a total of 70 patients with a molecular diagnosis of a RFVT2 or RTVT3 deficiency were retrieved. The riboflavin transporter deficiencies present with weakness, cranial nerve deficits including hearing loss, sensory symptoms including sensory ataxia, feeding difficulties and respiratory difficulties which are caused by a sensorimotor axonal neuropathy and cranial neuropathy. Biochemical abnormalities may be absent and the diagnosis can only be made or rejected by molecular analysis of all genes. Treatment with oral supplementation of riboflavin is lifesaving. Therefore, if a riboflavin transporter deficiency is suspected, treatment must be started immediately without first awaiting the results of molecular diagnostics.
核黄素（维生素B2）通过人类核黄素转运体RFVT1和RFVT3在小肠中被吸收。第三种核黄素转运体（RFVT2）在大脑中表达。2010年，研究表明核黄素转运体基因SLC52A2（编码RFVT2）和SLC52A3（编码RFVT3）的突变会导致一种神经退行性疾病，该疾病以前被称为布朗 - 维亚莱托 - 范莱尔（BVVL）综合征，现在重新命名为核黄素转运体缺乏症。在首例患者确诊五年后，我们对文献进行了综述，以研究分子确诊为核黄素转运体缺乏症患者的临床表现、治疗方法及预后情况。
在Medline、Pubmed数据库中使用检索词“布朗 - 维亚莱托 - 范莱尔综合征”和“核黄素转运体”进行检索，并筛选出分子诊断为核黄素转运体缺乏症患者的病例报告。
共检索到70例分子诊断为RFVT2或RTVT3缺乏症患者的报告。核黄素转运体缺乏症表现为肌无力、包括听力丧失在内的颅神经功能缺损、包括感觉性共济失调在内的感觉症状、喂养困难和呼吸困难，这些症状由感觉运动性轴索性神经病和颅神经病引起。可能不存在生化异常，只能通过对所有基因进行分子分析来做出或排除诊断。口服补充核黄素治疗可挽救生命。因此，如果怀疑存在核黄素转运体缺乏症，必须立即开始治疗，而无需先等待分子诊断结果。
