1例7岁男童手部震颤及l -2-羟基戊二酸尿新突变。

Balkan journal of medical genetics : BJMG Pub Date : 2019-12-21 eCollection Date: 2019-12-01 DOI:10.2478/bjmg-2019-0015
A Olgac, Orgun L Tekin, F S Ezgü, G Biberoǧlu, L Tümer
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引用次数: 6

摘要

l -2-羟基戊二酸尿症(L2HGA)是一种罕见的常染色体隐性代谢疾病,由编码L2HGDH基因的突变引起。神经系统症状是主要的临床症状。其独特的特征是在磁共振成像(MRI)上检测到白质的特定多灶性病变。一名7岁的土耳其裔男性病人因手部震颤而入院。体格检查显示大头畸形、意向性震颤、行走障碍、步态共济失调。尿有机酸分析显示l -2-羟基戊二酸(L2HG酸)排泄增加。对L2HGDH基因的分析发现了一个新的纯合子c.368A>G, p. (Tyr123Cys)突变。l -2-羟基戊二酸尿是一种可导致多种神经系统并发症的脑有机酸尿。早期识别L2HGA的症状对于开始支持治疗非常重要,这可能会减缓疾病的进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.

A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria.

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.368A>G, 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.

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