Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots

被引：45

作者：

Kallwass, Helmut

Carr, Cortney

Gerrein, Joseph

Titlow, Mariah

Pomponio, Robert

Bali, Deeksha

Dai, Jian

Kishnani, Priya

Skrinar, Alison

Corzo, Deyanira

Keutzer, Joan

机构：

[1] Genzyme Corp, Framingham, MA 01701 USA

[2] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2007年 / 90卷 / 04期

关键词：

Pompe disease; glycogen storage disease type 2; diagnosis; lysosomal acid alpha-glucosidase; GAA; dried blood spots; enzyme assay; acarbose;

D O I：

10.1016/j.ymgme.2006.12.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective a-glucosidase inhibitor, to eliminate isoenzyme interference. Here we demonstrate that this method efficiently detects late-onset Pompe patients who are frequently misdiagnosed by conventional methods due to residual GAA activity in other tissue types. (c) 2007 Elsevier Inc. All rights reserved.

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收藏

页码：449 / 452

页数：4

相关论文

共 20 条

[1] Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II:: Results of a phase I/II clinical trial [J].

Amalfitano, A ;

Bengur, AR ;

Morse, RP ;

Majure, JM ;

Case, LE ;

Veerling, DL ;

Mackey, J ;

Kishnani, P ;

Smith, W ;

McVie-Wylie, A ;

Sullivan, JA ;

Hoganson, GE ;

Phillips, JA ;

Schaefer, GB ;

Charrow, J ;

Ware, RE ;

Bossen, EH ;

Chen, YT .

GENETICS IN MEDICINE, 2001, 3 (02) :132-138

[2] Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper [J].

Chamoles, NA ;

Niizawa, G ;

Blanco, M ;

Gaggioli, D ;

Casentini, C .

CLINICA CHIMICA ACTA, 2004, 347 (1-2) :97-102

[3] ALPHA-GLUCOSIDASES IN WHITE BLOOD-CELLS, WITH REFERENCE TO DETECTION OF ACID ALPHA 1-4 GLUCOSIDASE DEFICIENCY [J].

DREYFUS, JC ;

POENARU, L .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1978, 85 (02) :615-622

[4] LYSOSOMAL GLYCOGEN-STORAGE INDUCED BY ACARBOSE, A 1,4-ALPHA-GLUCOSIDASE INHIBITOR [J].

GEDDES, R ;

TAYLOR, JA .

BIOCHEMICAL JOURNAL, 1985, 228 (02) :319-324

[5]

Hirschhorn R., 2000, METABOLIC MOL BASES, P3389

[6] The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease [J].

Jack, RM ;

Gordon, C ;

Scott, CR ;

Kishnani, PS ;

Bali, D .

GENETICS IN MEDICINE, 2006, 8 (05) :307-312

[7] A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease [J].

Kishnani, Priya S. ;

Hwu, Wuh-Liang ;

Mandel, Hanna ;

Nicolino, Marc ;

Yong, Florence ;

Corzo, Deyanira .

JOURNAL OF PEDIATRICS, 2006, 148 (05) :671-676

[8] Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease [J].

Kishnani, Priya Sunil ;

Nicolino, Marc ;

Voit, Thomas ;

Rogers, R. Curtis ;

Tsai, Anne Chun-Hui ;

Waterson, John ;

Herman, Gail E. ;

Amalfitano, Andreas ;

Thurberg, Beth L. ;

Richards, Susan ;

Davidson, Mark ;

Corzo, Deyanira ;

Chen, Y. T. .

JOURNAL OF PEDIATRICS, 2006, 149 (01) :89-97

[9] Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease:: results of a phase II clinical trial [J].

Klinge, L ;

Straub, V ;

Neudorf, U ;

Schaper, J ;

Bosbach, T ;

Görlinger, K ;

Wallot, M ;

Richards, S ;

Voit, T .

NEUROMUSCULAR DISORDERS, 2005, 15 (01) :24-31

[10] LYSOSOMAL GLYCOGEN ACCUMULATION IN RAT-LIVER AND ITS INVIVO KINETICS AFTER A SINGLE INTRAPERITONEAL INJECTION OF ACARBOSE, AN ALPHA-GLUCOSIDASE INHIBITOR [J].

KONISHI, Y ;

OKAWA, Y ;

HOSOKAWA, S ;

FUJIMORI, K ;

FUWA, H .

JOURNAL OF BIOCHEMISTRY, 1990, 107 (02) :197-201