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首页> 外文期刊>International Journal of Neonatal Screening >A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar
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A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

机译：卡塔尔新生儿筛查诊断为罕见的丙二酸尿症。

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Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily diagnosed and can be included in the organic acid screen in NBS programs. In Qatar, we report the first case of an asymptomatic baby screened and diagnosed with malonic aciduria through NBS. This patient has a genetic variant of malonyl-CoA decarboxylase that has not been previously reported in the literature. This condition should be differentiated from a similar disorder, combined malonic and methylmalonic aciduria. The clinical phenotype of malonic aciduria is variable and the pathophysiology is not fully understood. There is no established guidance or recommendations regarding the appropriate treatment regimen, dietary therapy or regular follow-up of these patients. Most available evidence for treatment is based on a single study or case report.
机译：丙二酸尿症是一种罕见的常染色体隐性有机酸疾病。随着串联质谱法广泛用于分析新生儿筛查（NBS）的干血斑上氨基酸/酰基肉碱的特性，这种情况可以很容易地诊断出来，并且可以包括在NBS程序的有机酸筛查中。在卡塔尔，我们报告了首例无症状婴儿，通过NBS筛查并诊断为丙二酸尿症。该患者具有丙二酰辅酶A脱羧酶的遗传变异体，以前在文献中未报道过。该病应与丙二酸和甲基丙二酸尿症合并症相区别。丙二酸尿症的临床表型是可变的，并且尚未完全了解其病理生理学。对于这些患者的适当治疗方案，饮食治疗或定期随访，尚无既定的指南或建议。大多数可用于治疗的证据均基于一项研究或病例报告。

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