Hoffmann G F, Jakobs C, Rating D, Sweetman L, Trefz F K
Universitäts-Kinderkliniken, Göttingen.
Monatsschr Kinderheilkd. 1990 Jul;138(7):381-8.
Organoacidopathies are the most common life-threatening inborn errors of metabolism presenting acutely in the neonatal period. Early diagnosis rests on a high degree of suspicion. Clinical and laboratory findings are often nonspecific and can be misinterpreted. We present an algorithm for a quick and comprehensive diagnosis of these disorders using commonly available parameters. Different methods for the prenatal diagnosis of organoacidopathies are discussed and our experience with over 150 cases presented. The method of choice is the precise quantification of elevated levels of metabolites in amniotic fluid obtained by amniocentesis at 12-18 weeks of pregnancy. Quantification is best done by stable isotope dilution analysis with the addition of the labelled metabolite to the amniotic fluid. A positive prenatal diagnosis allows a decision of the family for a termination of pregnancy or the immediate institution of therapy after birth. The conduction of a prenatal diagnosis requires the knowledge of the exact diagnosis of a previously affected child.
有机酸血症是新生儿期急性出现的最常见的危及生命的先天性代谢缺陷病。早期诊断依赖高度的怀疑。临床和实验室检查结果往往不具特异性，可能会被误解。我们提出一种使用常用参数快速全面诊断这些疾病的算法。讨论了有机酸血症产前诊断的不同方法，并介绍了我们150多例病例的经验。首选方法是在妊娠12 - 18周通过羊膜穿刺术获取羊水，精确定量其中升高的代谢物水平。最好通过向羊水中添加标记代谢物的稳定同位素稀释分析法进行定量。产前诊断呈阳性可让家庭决定终止妊娠或在婴儿出生后立即开始治疗。进行产前诊断需要了解先前患病儿童的确切诊断。
