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首页> 外文期刊>Journal of Inherited Metabolic Disease >Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia
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Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia

机译：串联质谱法测定干血斑中的琥珀酰丙酮可在肝肾性酪氨酸血症的情况下对症前检测

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摘要

Tyrosinaemia type I, or fumarylacetoacetase deficiency, causes hepatorenal damage by accumulation of fumarylacetoacetate. Patients are generally in good condition at birth, but are at risk of developing serious metabolic crises with liver failure and hepatic coma. An early start of treatment with NTBC and a tyrosine-balanced diet can prevent harm to the patients. The application of tandem mass spectrometry to newborn screening allows for easy determination of tyrosine to detect the presence of hypertyrosinaemia in the neonate, but most patients with tyrosinaemia type I do not present with high tyrosine levels at the time of newborn screening. We report on a 7-week-old girl presenting with acute hepatopathy and severe coagulopathy due to tyrosinaemia type I. The metabolic screening, which was performed by tandem mass spectrometry at the age of 48 h, had revealed normal values for tyrosine and methionine that were well within ranges observed in the general population and equally normal ratios of methionine/tyrosine and tyrosine/serine. In this patient even lowering the cut-off levels for tyrosine and methionine would not have provided better sensitivity. Residual blood spots from the newborn screening filter paper were retrospectively analysed using a specific mass-spectrometric method for the detection of succinylacetone and revealed a 5-fold elevated succinylacetone concentration. This indicates that identification of all newborns with hepatorenal tyrosinaemia is only possible by determination of succinylacetone as part of the newborn screening process.
机译：I型酪氨酸血症或富马酰乙酰乙酸缺乏会通过富马酰乙酰乙酸的积累引起肝肾损害。患者通常在出生时就处于良好状态，但是有发展为肝衰竭和肝昏迷的严重代谢危机的风险。尽早开始使用NTBC和平衡酪氨酸饮食治疗可以防止对患者的伤害。串联质谱在新生儿筛查中的应用可以轻松确定酪氨酸，以检测新生儿中是否存在高酪氨酸血症，但是大多数I型酪氨酸血症的患者在新生儿筛查时并不表现出高酪氨酸水平。我们报道了一个7周大的女孩，由于I型酪氨酸血症而出现急性肝病和严重凝血病。在48 h时通过串联质谱进行的代谢筛查显示酪氨酸和蛋氨酸的正常值完全在一般人群中观察到的范围之内，蛋氨酸/酪氨酸和酪氨酸/丝氨酸的比率也正常。在该患者中，即使降低酪氨酸和蛋氨酸的截止水平也不会提供更好的敏感性。使用特定的质谱方法对新生儿筛查滤纸上的残留血点进行回顾性分析，以检测琥珀酰丙酮，并发现琥珀酰丙酮浓度提高了5倍。这表明，只有在新生儿筛查过程中确定琥珀酰丙酮，才能鉴定出所有患有肝肾性酪氨酸血症的新生儿。

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  • 来源
    《Journal of Inherited Metabolic Disease》 |2007年第4期|p 610-p 610|共1页
  • 作者

    J. F. W. Weigel; N. Janzen; R. W. Pf?ffle; J. Thiery; W. Kiess; U. Ceglarek;

  • 作者单位

    University Hospital for Children and Adolescents Oststrasse 21–25 04317 Leipzig Germany;

    Screening-Laboratory Hanover Germany;

    University Hospital for Children and Adolescents Oststrasse 21–25 04317 Leipzig Germany;

    Institute of Laboratory Medicine Clinical Chemistry and Molecular Diagnostics University Hospital Leipzig Leipzig Germany;

    University Hospital for Children and Adolescents Oststrasse 21–25 04317 Leipzig Germany;

    Institute of Laboratory Medicine Clinical Chemistry and Molecular Diagnostics University Hospital Leipzig Leipzig Germany;

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