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Spastic gait, intellectual disability and seizures due to a rare mutation causing hyperargininemia
Clinical Neurology and Neurosurgery ( IF 1.9 ) Pub Date : 2021-08-14 , DOI: 10.1016/j.clineuro.2021.106895
Christos Bakirtzis 1 , Nikoletta Smyrni 1 , Theodora Afrantou 1 , Marina Kleopatra Boziki 1 , Nikolaos Grigoriadis 1
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Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme. We present a case of a 20-year-old male with severe spastic gait, intellectual disability and seizures. Metabolic tests revealed high levels of arginine in blood serum. Hyperargininemia was attributed to a likely pathogenic rare mutation of ARG1 gene [Chr6: g131905002_131905002 G>A (p.Arg308Gln) homozygous] detected in Whole Exome Sequencing resulting in deficiency in arginase I enzyme. Following the diagnosis, the patient has been treated with low protein diet, aminoacid and vitamin supplements. The accumulation of arginine, may contribute to the pathogenesis of severe neurological manifestations, however, low protein intake diet may lead to a favorable outcome. Therefore, clinicians should screen for hyperargininemia in early childhood in case of strong clinical suspicion.



中文翻译:

一种导致高精氨酸血症的罕见突变导致痉挛步态、智力障碍和癫痫发作

高精氨酸血症是一种由精氨酸酶 I 缺陷引起的常染色体隐性遗传病。我们介绍了一名 20 岁男性患有严重痉挛步态、智力障碍和癫痫发作的病例。代谢测试显示血清中精氨酸含量高。高精氨酸血症归因于在全外显子组测序中检测到 ARG1 基因 [Chr6: g131905002_131905002 G>A (p.Arg308Gln) 纯合子] 的可能致病性罕见突变,导致精氨酸酶 I 酶缺乏。诊断后,患者接受了低蛋白饮食、氨基酸和维生素补充剂的治疗。精氨酸的积累可能导致严重的神经系统表现的发病机制,然而,低蛋白质摄入的饮食可能会导致良好的结果。所以,

更新日期:2021-08-20
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