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首页> 外文期刊>American journal of medical genetics, Part A >Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency
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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

机译：核黄素转运蛋白缺乏模拟复杂II缺乏造成的线粒体肌病

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摘要

Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto‐bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8‐year‐old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss. His muscle biopsy showed complex II deficiency and ragged red fibers consistent with mitochondrial myopathy. Whole exome sequencing revealed a homozygous likely pathogenic variant in SLC52A2 (c.917GA; p.Gly306Glu). Patient 2 is a 14‐month‐old boy with global developmental delay, respiratory insufficiency requiring ventilator support within the first year of life. His muscle biopsy revealed combined complex II?+?III deficiency and ragged red fibers consistent with mitochondrial myopathy. Whole exome sequencing identified a homozygous likely pathogenic variant in SCL52A3 (c.1223GA; p.Gly408Asp). We report two new patients with riboflavin transporter deficiency, caused by mutations in two different riboflavin transporter genes. Both patients presented with complex II deficiency. This treatable neurometabolic disorder can mimic mitochondrial myopathy. In patients with complex II deficiency, riboflavin transporter deficiency should be included in the differential diagnosis to allow early treatment and improve neurodevelopmental outcome.
机译：双腿可能在SLC52A2和SLC52A3中的致病变体导致核黄素转运蛋白缺乏。它的特征在于肌肉弱，共济失调，渐进式浮藻珠Palsy，肌肌萎缩和感官听力损失。口腔核黄素停止疾病进展，可能会逆转症状。我们报告了两个新的患者，其临床和生化特征模仿线粒体肌病。患者1是一名8岁的男性，具有全球发育延迟，轴向和阑尾低醌，共济失调和感觉内听力损失。他的肌肉活组织检查显示综合II缺乏症，缠绕的红纤维与线粒体肌病一致。整体exome测序揭示了SLC52A2（C.917G＆GT; A; P.Gly306Glu）中的纯合可能的致病变体。患者2是一个14个月大的男孩，具有全球发展延迟，呼吸不足，需要在生命的第一年内支撑呼吸机。他的肌肉活组织检查揭示了综合体II〜+？III缺乏，缠绕的红纤维与线粒体肌病一致。整体exome测序鉴定了SCL52A3（C.1223G＆GT; A; P.Gly408AsP）中的纯合可能的致病变体。我们报告了两种核糖蛋白转运蛋白缺乏症的新患者，由两种不同的核黄素转运蛋白基因突变引起。两名患者都呈现复杂的II缺乏症。这种可治疗的神经曲线症可以模仿线粒体肌病。在患有复杂的II缺乏症的患者中，核黄素转运蛋白缺乏应包括在鉴别诊断中，以便早期治疗和改善神经发育结果。

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