Abstract：
BACKGROUND:In recent years, there have been significant advances in the development of enzyme replacement and other therapies for lysosomal storage disorders (LSDs). Early diagnosis, before the onset of irreversible pathology, has been demonstrated to be critical for maximum efficacy of current and proposed therapies. In the absence of a family history, the presymptomatic detection of these disorders ideally can be achieved through a newborn screening program. One approach to the development of such a program is the identification of suitable screening markers. In this study, the acid alpha-glucosidase protein was evaluated as a marker protein for Pompe disease and potentially for other LSDs. METHODS:Two sensitive immunoquantification assays for the measurement of total (precursor and mature) and mature forms of acid alpha-glucosidase protein were used to determine the concentrations in plasma and dried blood spots from control and LSD-affected individuals. RESULTS:In the majority of LSDs, no significant increases above control values were observed. However, individuals with Pompe disease showed a marked decrease in acid alpha-glucosidase protein in both plasma and whole blood compared with unaffected controls. For plasma samples, this assay gave a sensitivity of 95% with a specificity of 100%. For blood spot samples, the sensitivity was 82% with a specificity of 100%. CONCLUSIONS:This study demonstrates that it is possible to screen for Pompe disease by screening the concentration of total acid alpha-glucosidase in plasma or dried blood spots.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Umapathysivam K,Whittle AM,Ranieri E,Bindloss C,Ravenscroft EM,van Diggelen OP,Hopwood JJ,Meikle PJsubject
Has Abstractpub_date
2000-09-01 00:00:00pages
1318-25issue
9eissn
0009-9147issn
1530-8561journal_volume
46pub_type
杂志文章abstract：:It has been hypothesized over many years that the autoimmune endocrine diseases are each due to antigen-specific defects in suppressor (regulatory) T lymphocyte function. There is now increasing evidence in studies of autoimmune thyroid disease and insulin-dependent diabetes mellitus that suppressor cells are activate...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：
更新日期：1994-11-01 00:00:00
abstract：:We present a comparative evaluation of two commercial kits, the "Quantitope" and "GammaCoat," for radioimmunoassay of digoxin in serum. These kits, in which iodine-125 is used as a label, proved to suitable for digoxin assay as determined by their reproducibility, sensitivity, precision, and a regression analysis. Hem...
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journal_title：Clinical chemistry
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journal_title：Clinical chemistry
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更新日期：1977-12-01 00:00:00
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pub_type： 历史文章,杂志文章
doi：
更新日期：1998-09-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：1983-02-01 00:00:00
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doi：
更新日期：1999-09-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1995-03-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-02-01 00:00:00
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journal_title：Clinical chemistry
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doi：
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2019.309633
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doi：
更新日期：1980-09-01 00:00:00
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doi：
更新日期：1991-02-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1976-09-01 00:00:00
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doi：
更新日期：1990-02-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1976-08-01 00:00:00
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doi：
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更新日期：1981-08-01 00:00:00
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