单胺氧化酶A缺乏症：随机尿样中的生物胺代谢物

Monoamine oxidase A deficiency: biogenic amine metabolites in random urine samples.

作者信息

Abeling N G, van Gennip A H, van Cruchten A G, Overmars H, Brunner H G

机构信息

University of Amsterdam, Department of Clinical Chemistry and Department of Pediatrics, The Netherlands.

出版信息

J Neural Transm Suppl. 1998;52:9-15. doi: 10.1007/978-3-7091-6499-0_2.

DOI:10.1007/978-3-7091-6499-0_2

PMID:9564603

Abstract

We have recently described an association between abnormal behaviour and monoamine oxidase A (MAO-A) deficiency in several males from a single large Dutch kindred. A characteristically abnormal excretion pattern of biogenic amine metabolites was present in 24-hour urine of affected males. Because of this strikingly abnormal metabolite pattern observed in 24 hour urine samples of MAO-A deficient males we hypothesized that it should be possible to diagnose this condition by examining random urine samples. We therefore studied multiple urine samples obtained over a two-week study period from two males with selective MAO-A deficiency. The results demonstrate that the characteristic abnormalities in the excretion of biogenic amines and their metabolites were faithfully present in every one of 12 independent samples obtained from the MAO-A deficient males over the two-week study period. We conclude that MAO-A deficiency can be reliably diagnosed by measuring the ratio of normetanephrine (NMN) to VMA (or that of NMN to MHPG) in random urine samples.

摘要

我们最近描述了来自一个荷兰大家族的几名男性中异常行为与单胺氧化酶A（MAO-A）缺乏之间的关联。受影响男性的24小时尿液中存在生物胺代谢产物特征性的异常排泄模式。由于在MAO-A缺乏男性的24小时尿液样本中观察到这种明显异常的代谢产物模式，我们推测通过检查随机尿液样本应该可以诊断这种疾病。因此，我们研究了在为期两周的研究期间从两名选择性MAO-A缺乏男性身上获取的多个尿液样本。结果表明，在为期两周的研究期间，从MAO-A缺乏男性身上获取的12个独立样本中的每一个都忠实地呈现出生物胺及其代谢产物排泄的特征性异常。我们得出结论，通过测量随机尿液样本中去甲变肾上腺素（NMN）与香草扁桃酸（VMA）的比值（或NMN与3-甲氧基-4-羟基苯乙二醇（MHPG）的比值），可以可靠地诊断MAO-A缺乏。