de Jong A P, Haan E A, Manson J I, Wise G A, Ouvrier R A, Wadman S K
Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
Neuropediatrics. 1989 Feb;20(1):3-11. doi: 10.1055/s-2008-1071257.
Kinetics of catecholamine biosynthesis and metabolism have been examined in patients with hereditary progressive dystonia with marked diurnal fluctuation of symptoms (HPD, Segawa's disease). Three patients and a healthy control received an oral load of deuterated tyrosine, and monodeuterium labelled catecholamines and their metabolites in urine and plasma were examined by gas chromatography-mass spectrometry. Patients excreted normal amounts of the primary metabolites of dopamine (dihydroxyphenylacetic acid, homovanillic acid) in urine, suggesting normal rates of dopamine production. However, the biological half-life of dopamine in the patients was reduced to about half that of controls. Noradrenaline biosynthesis and metabolism were normal. Taken together, these results are interpreted to show a reduced biological half-life of dopamine in the brains of these patients, possibly caused by a defect in dopamine storage. Impaired dopamine storage may be the basis of the diurnal fluctuation in symptoms.
对患有遗传性进行性肌张力障碍且症状有明显昼夜波动的患者（HPD，即Segawa病）的儿茶酚胺生物合成和代谢动力学进行了研究。三名患者和一名健康对照者口服了氘代酪氨酸，通过气相色谱 - 质谱法检测了尿液和血浆中单氘标记的儿茶酚胺及其代谢产物。患者尿液中多巴胺的主要代谢产物（二羟基苯乙酸、高香草酸）排泄量正常，表明多巴胺生成速率正常。然而，患者体内多巴胺的生物半衰期缩短至对照组的约一半。去甲肾上腺素的生物合成和代谢正常。综合来看，这些结果表明这些患者大脑中多巴胺的生物半衰期缩短，可能是由多巴胺储存缺陷所致。多巴胺储存受损可能是症状昼夜波动的基础。
