Zetina M E, González-Noriega A
Unidad de Genética de la Nutrición, Universidad Nacional Autónoma deMéxico, D.F.
Rev Invest Clin. 1991 Jan-Mar;43(1):52-60.
Enzymatic determinations of the levels of lysosomal enzymes in serum or leukocytes samples have been carried out for the diagnosis of 7 sphingolipidosis. This methodology has allowed us to study 49 homozygotes and 33 close relatives at risk for the carrier state of a particular sphingolipidosis. So far we have diagnosed: 21 Gaucher's disease patients, 17 metachromatic leukodistrophy, 4 Niemann-Pick, 4 GM2 gangliosidosis, 2 Fabry and one GM1 gangliosidosis. Limitations in the performance and interpretation of the levels of the defective enzyme in heterozygotes, homozygotes and those variants not detected with the assays described are discussed.
已对血清或白细胞样本中的溶酶体酶水平进行酶法测定，以诊断7种鞘脂贮积症。该方法使我们能够研究49名纯合子和33名有特定鞘脂贮积症携带者状态风险的近亲。到目前为止，我们已诊断出：21例戈谢病患者、17例异染性脑白质营养不良、4例尼曼-匹克病、4例GM2神经节苷脂贮积症、2例法布里病和1例GM1神经节苷脂贮积症。还讨论了杂合子、纯合子以及用所述检测方法未检测到的那些变体中缺陷酶水平测定和解释方面的局限性。
