Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

被引:50
作者
Chamoles, NA [1 ]
Blanco, M [1 ]
Gaggioli, D [1 ]
Casentini, C [1 ]
机构
[1] Neurochem Lab, RA-1425 Buenos Aires, DF, Argentina
关键词
Tay-Sachs disease; Sandhoff disease; dried blood spots on filter paper; total hexosaminidase; hexosaminidase A; newborn screening;
D O I
10.1016/S0009-8981(02)00002-5
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Background: Tay-Sachs disease (TSD), Sandhoff disease (SD) and variants are caused by deficient activity of the lysosomal enzymes hexosaminidase A (HA) and total hexosaminidase (TH) (hexosaminidase A plus B), respectively. For diagnosis, these enzymes are usually measured in plasma or extracts of leukocytes. We describe methods for the assay of hexosaminidase A and total hexosaminidase activities in dried blood spots (DBSs) on filter paper, Materials and Methods: We studied 163 healthy controls, 9 Tay-Sachs patients, 4 Sandhoff patients, 18 obligate carriers and the newborn-screening cards from two patients with Tay-Sachs and one patient with Sandhoff disease. To tubes containing a 3-mm-diameter blood spot, we added elution liquid and substrate solution. After incubation at 37 degreesC, the amount of hydrolyzed product was compared with a calibrator to allow the quantification of enzyme activity. Results and conclusions: The described methodology is useful to distinguish patients with Tay-Sachs disease or Sandhoff disease from carriers and controls using samples that are sufficiently stable to be transported to the testing laboratory by mail, The diagnosis of both diseases from a newborn-screening card (NSC) was clearly demonstrated, even after storage for up to 38 months at room temperature. The newborn-screening card has been added to the biological materials that allow the identification of patients with Tay-Sachs disease and Sandhoff disease. (C) 2002 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:133 / 137
页数:5
相关论文
共 7 条
  • [1] Chamoles NA, 2001, CLIN CHEM, V47, P780
  • [2] Fabry disease: enzymatic diagnosis in dried blood spots on filter paper
    Chamoles, NA
    Blanco, M
    Gaggioli, D
    [J]. CLINICA CHIMICA ACTA, 2001, 308 (1-2) : 195 - 196
  • [3] Chamoles NA, 2001, CLIN CHEM, V47, P2098
  • [4] CHAMOLES NA, 2001, CLIN CHEM, V47, P2071
  • [5] Gravel RA, 2001, METABOLIC MOL BASES, P3827
  • [6] WENGER DA, 1961, TECHNIQUES DIAGNSOTI, P587
  • [7] WORTHMAN CM, 1994, CLIN CHEM, V40, P448