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首页> 外文期刊>American journal of medical genetics, Part C. Seminars in medical genetics >Methylmalonic and propionic aciduria.
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Methylmalonic and propionic aciduria.

机译：甲基丙二酸和丙酸尿症。

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Methylmalonic and propionic aciduria (PA) are the most frequent forms of branched-chain organic acidurias. These autosomal recessive disorders result from deficient activity of methylmalonyl-CoA mutase and propionyl-CoA carboxylase, respectively. Clinically, acute or chronic neurologic signs are caused by the accumulation of toxic compounds proximal to the metabolic block. Phenotype varies from severe neonatal-onset forms with high mortality and poor outcome to milder forms with a later onset. In both cases the clinical course is dominated by the risk of relapses of life-threatening episodes of metabolic decompensation and of severe organ failure. Despite improvement of treatment, the overall outcome remains disappointing with no major differences between the two diseases. The diagnosis is based on the presence of characteristic compounds in body fluids as detected by organic acid analysis in urine and acylcarnitine profile in blood. Therapy is based on low-protein high-energy diet, carnitine supplementation, and metronidazole. Some patients with methylmalonic aciduria (MMA) respond to pharmacological doses of vitamin B12. Given the poor long-term prognosis, liver transplantation has been recently attempted as an alternative therapy to conventional medical treatment to cure the underlying metabolic defect. Nevertheless, the overall experience to date does not clearly demonstrate its effectiveness in preventing further deterioration or improving survival and quality of life. The recent implementation of neonatal screening by electrospray tandem mass spectrometry has decreased early mortality and improved the short-term outcome, without changing the detection rate of both diseases in the screening population compared to clinically detected cases. However, the limited number of patients and the short duration of their follow-up do not yet permit drawing final conclusions on its effect on the long-term outcome of methylmalonic and propionic acidemia.
机译：甲基丙二酸和丙酸尿症（PA）是支链有机酸尿症的最常见形式。这些常染色体隐性疾病分别是由甲基丙二酰-CoA突变酶和丙酰-CoA羧化酶活性不足引起的。临床上，急性或慢性神经系统症状是由代谢障碍附近有毒化合物的积累引起的。表型从死亡率高，预后差的严重新生儿发作形式到后期发作的轻度形式不等。在这两种情况下，临床过程均以危及生命的代谢失代偿和严重器官衰竭发作的复发风险为主导。尽管治疗有所改善，但总体结果仍然令人失望，两种疾病之间没有重大差异。该诊断基于尿液中有机酸分析和血液中酰基肉碱曲线检测到的体液中特征性化合物的存在。治疗基于低蛋白高能量饮食，肉碱补充和甲硝唑。一些患有甲基丙二酸尿症（MMA）的患者对药理剂量的维生素B12有反应。由于长期预后较差，最近已尝试将肝移植作为传统医学疗法的替代疗法，以治疗潜在的代谢缺陷。然而，迄今为止的总体经验并未清楚地表明其在防止进一步恶化或改善生存和生活质量方面的有效性。与临床检测病例相比，最近通过电喷雾串联质谱法进行新生儿筛查已降低了早期死亡率，并改善了短期结局，而没有改变筛查人群中两种疾病的检出率。但是，由于患者数量有限且随访时间短，尚不能就其对甲基丙二酸和丙酸血症长期结果的影响得出最终结论。

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