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首页> 外文期刊>Balkan journal of medical genetics: BJMG >A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria
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A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria

机译：一个7岁的男孩用手震颤和L-2-羟基玻璃酸尿的新型突变

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L-2-hydroxyglutaric aciduria (L2HGA), which is a rare autosomal recessive metabolic disorder caused by mutations in the encoding L2HGDH gene. Neurological symptoms are the main predominant clinical signs. The distinctive feature is the specific multifocal lesion of the white matter detected on magnetic resonance imaging (MRI). A 7-year-old male patient of Turkish origin was admitted to the hospital because of hand tremors. Physical examination revealed macrocephaly, intention tremors, walking disability and ataxic gait. Urine organic acid analysis showed increased excretion of L-2-hydroxyglutaric acid (L2HG acid). Analysis of the L2HGDH gene revealed a novel homozygous c.368AG, p. (Tyr123Cys) mutation. L-2-hydroxyglutaric aciduria is a cerebral organic aciduria that may lead to various neurological complications. Early recognition of symptoms of L2HGA is important for initiation of supportive therapy that may slow down the progression of the disease.
机译：L-2-羟基凝集核（L2HGA），是由编码L2HGDH基因的突变引起的稀有常染色体隐性代谢紊乱。神经系统症状是主要的主要临床症状。独特特征是在磁共振成像（MRI）上检测到的白质的特定多焦点病变。由于手势，一个7岁的土耳其原产地的男性患者被送往医院。体检显示宏观畸形，意图震颤，行走残疾和ataxic步态。尿有机酸分析显示L-2-羟基戊酸（L2Hg酸）的排泄增加。 L2HGDH基因的分析显示新型纯合C.368A> G，p。 （tyr123cys）突变。 L-2-羟基凝集核是一种脑有机酸核，可能导致各种神经系统并发症。早期识别L2HGA的症状对于启动的支持性治疗可能会减缓疾病进展的引发至关重要。

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