The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

40Citations
Citations of this article
45Readers
Mendeley users who have this article in their library.

This article is free to access.

Abstract

PURPOSE: Acid alpha-glucosidase is present in various tissues, including blood cells. Historically, enzyme measurement in cultured fibroblasts, or muscle, has been the gold standard to confirm a diagnosis of Pompe disease, due to the possibility of alternate isoenzyme activity masking disease in white cell assays. Enzyme measurement in an isolated lymphocyte population with acarbose, an inhibitor of neutral alpha-glucosidase, has greatly improved the sensitivity and specificity of the test in blood cells allowing for more rapid laboratory testing for Pompe disease. METHODS: An assay for acid alpha-glucosidase was performed with and without inhibitor in lymphocytes from 14 patients with a clinical suspicion of infantile Pompe disease. Concurrent testing was performed in fibroblasts in an independent laboratory. RESULTS: Thirteen of 14 patients demonstrated a clear deficiency in lymphocytes with acarbose inhibition. One patient was indeterminate, although below normal activity, suggesting the need for confirmatory testing. Tissue enzyme activity in all was consistent with infantile Pompe disease, and corroborated enzyme activity seen in lymphocytes. There were no false positives for disease, making the positive predictive value of lymphocyte enzyme testing 100%. CONCLUSION: Enzyme assay using acarbose as an inhibitor, can be performed in isolated lymphocytes for rapid diagnosis of infantile Pompe disease. Copyright © American College of Medical Genetics.

References Powered by Scopus

The natural course of infantile Pompe's disease: 20 Original cases compared with 133 cases from the literature

465Citations
N/AReaders
Get full text

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

384Citations
N/AReaders
Get full text

Recombinant human α-glucosidase from rabbit milk in Pompe patients

338Citations
N/AReaders
Get full text

Cited by Powered by Scopus

Pompe's disease

625Citations
N/AReaders
Get full text

Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program

210Citations
N/AReaders
Get full text

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

125Citations
N/AReaders
Get full text

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Cite

CITATION STYLE

APA

Jack, R. M., Gordon, C., Scott, C. R., Kishnani, P. S., & Bali, D. (2006). The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genetics in Medicine, 8(5), 307–312. https://doi.org/10.1097/01.gim.0000217785.19262.9e

Readers' Seniority

Tooltip

PhD / Post grad / Masters / Doc 18

60%

Researcher 8

27%

Professor / Associate Prof. 4

13%

Readers' Discipline

Tooltip

Medicine and Dentistry 18

60%

Agricultural and Biological Sciences 5

17%

Biochemistry, Genetics and Molecular Bi... 5

17%

Pharmacology, Toxicology and Pharmaceut... 2

7%

Save time finding and organizing research with Mendeley

Sign up for free