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首页> 外文期刊>Neuropediatrics >D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
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D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

机译：兄弟姐妹中的D-2-羟基戊二酸尿症和1型戊二酸尿症：是巧合还是相关疾病？

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摘要

Glutaric aciduria type 1 (GA1) and D-2-hydroxyglutaric aciduria ( D-2-HGA) are cerebral organic acidurias characterized by the excretion of 3-hydroxyglutaric and D-2-hydroxyglutaric acids, respectively. GA1 is caused by a deficiency of glutaryl-CoA dehydrogenase encoded by the GCDH gene; the biochemical and genetic basis of D-2-HGA is unknown. We diagnosed GA1 in the son of consanguineous Palestinian parents, and D-2-HGA in his sister and brother. All three siblings were neurologically and developmentally normal. A small but abnormal increase in excretion of D-2-hydroxyglutaric acid was also found in the sibling with GA1. These observations suggested a possible pathophysiological link between these two disorders. The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene. However, sequence analysis of the GCDH gene in 8 additional unrelated patients with D-2-HGA and 3 with combined D/ L-2-HGA did not revealany pathogenic mutations. The biochemical and genetic basis of D-2-HGA remains to be determined.
机译：1型戊二酸尿酸（GA1）和D-2-羟基戊二酸尿酸（D-2-HGA）是脑有机酸尿症，其特征是分别排泄了3-羟基戊二酸和D-2-羟基戊二酸。 GA1是由GCDH基因编码的戊二酰辅酶A脱氢酶缺乏引起的; D-2-HGA的生化和遗传基础尚不清楚。我们在近亲的巴勒斯坦父母的儿子中诊断出GA1，在他的妹妹和兄弟中诊断出D-2-HGA。这三个兄弟姐妹在神经和发育上均正常。在GA1的同胞中还发现D-2-羟基戊二酸的排泄量有少量但异常的增加。这些观察结果表明这两种疾病之间可能存在病理生理联系。 GA1的兄弟姐妹是纯合子，而D-2-HGA的兄弟姐妹是GCDH基因第11外显子的1283 C> T错义突变（T416I）的杂合子。但是，对另外8名D-2-HGA无关患者和3名D / L-2-HGA合并患者的GCDH基因进行序列分析，未发现任何致病突变。 D-2-HGA的生化和遗传基础仍有待确定。

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