运动神经元病患者的血浆溶酶体酶水平。
Plasma lysosomal enzyme levels in patients with motor neuron disease.
作者信息
Michelakakis H, Papadimitriou A, Divaris R, Mavridou I, Dimitriou E
机构信息
Institute of Child Health, Children's Hospital, Ag. Sophia, Athens, Greece.
出版信息
J Inherit Metab Dis. 1995;18(1):72-4. doi: 10.1007/BF00711376.
beta-Hexosaminidase and acid-alpha-mannosidase were estimated in 17 adult patients with motor neuron disease. Normal plasma levels of beta-hexosaminidase ((A+B) and A) were found in all patients studied. Plasma acid alpha-mannosidase levels were normal in all but two patients with the spinal muscular atrophy type of the disorder. In addition, altered biochemical properties of acid alpha-mannosidase (i.e. Km, thermal stability) were found in the low-activity cases.
对17例成年运动神经元病患者的β-己糖胺酶和酸性α-甘露糖苷酶进行了评估。在所有研究患者中均发现血浆β-己糖胺酶（（A+B）和A）水平正常。除两名患有脊髓性肌萎缩症型疾病的患者外，所有患者的血浆酸性α-甘露糖苷酶水平均正常。此外，在低活性病例中发现酸性α-甘露糖苷酶的生化特性发生改变（即Km、热稳定性）。
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