亨廷顿舞蹈症患者血浆中丙氨酸和异亮氨酸水平降低。

Decreased plasma alanine and isoleucine in Huntington's disease.

作者信息

Reilmann R, Rolf L H, Lange H W

机构信息

Department of Neurology, University of Münster Medical School, Germany.

出版信息

Acta Neurol Scand. 1995 Mar;91(3):222-4. doi: 10.1111/j.1600-0404.1995.tb00438.x.

DOI:10.1111/j.1600-0404.1995.tb00438.x

PMID:7793240

Abstract

Amino acid concentrations in plasma of patients with Huntington's disease (HD) were determined in 16 patients and 21 age- and sex-matched healthy controls. Alanine and isoleucine were significantly decreased in HD plasma whereas arginine, histidine, leucine, lysine, ornithine, proline, serine, threonine, tyrosine, and valine showed no significant changes. Our findings confirm the decreases of alanine and isoleucine that were described in plasma and cerebrospinal fluid by other investigators. A possible defect in cellular uptake or metabolism of neutral amino acids seems to be a consistent feature of HD.

摘要

对16例亨廷顿舞蹈症（HD）患者及21名年龄和性别匹配的健康对照者的血浆氨基酸浓度进行了测定。HD患者血浆中的丙氨酸和异亮氨酸显著降低，而精氨酸、组氨酸、亮氨酸、赖氨酸、鸟氨酸、脯氨酸、丝氨酸、苏氨酸、酪氨酸和缬氨酸无显著变化。我们的研究结果证实了其他研究者在血浆和脑脊液中所描述的丙氨酸和异亮氨酸的降低情况。中性氨基酸细胞摄取或代谢中可能存在的缺陷似乎是HD的一个一致特征。