Freedman L S, Ebstein R P, Goldstein M, Axelrod F B, Dancis J
J Lab Clin Med. 1975 Jun;85(6):1008-12.
The mean value of serum dopamine-beta-hydroxylase (D beta H) in patients with familial dysautonomia, 1 to 5 years of age, does not differ significantly from control children of the same age (24.0 plus or minus 21.06 S.D. as compared to 34.0 plus or minus 33.12). Among patients 6 years of age and over, the mean value was slightly but significantly lower than in control subjects (62.7 plus or minus 49.61, as compared to control values of 86.1 plus or minus 54.31 p less than 0.025). However, the determination of serum D beta H does not contribute to the diagnosis of familial dysautonomia because well over half the children have levels within 1 S.D. of the mean levels of the control subjects. There is no correlation with clinical symptomatology. The disease process may tend to depress the level of serum D beta H but the effect is neither consistent nor decisive.
1至5岁家族性自主神经功能异常患者血清多巴胺-β-羟化酶（DβH）的平均值与同龄对照儿童相比无显著差异（分别为24.0±21.06标准差和34.0±33.12）。在6岁及以上患者中，平均值略低于对照受试者，但差异有统计学意义（分别为62.7±49.61和对照值86.1±54.31，p<0.025）。然而，血清DβH的测定对家族性自主神经功能异常的诊断并无帮助，因为超过半数儿童的水平在对照受试者平均水平的1个标准差范围内。其与临床症状无相关性。疾病过程可能倾向于降低血清DβH水平，但这种影响既不持续也不具有决定性。
