scholarly journals Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

2016 ◽  
pp. 15-27 ◽  
Author(s):  
Jyotsna Verma ◽  
Divya C. Thomas ◽  
David C. Kasper ◽  
Sandeepika Sharma ◽  
Ratna D. Puri ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Dried Blood Spots ◽  
Lysosomal Storage Disorders ◽  
Enzyme Assays ◽  
Lysosomal Storage ◽  
Blood Spots ◽  
Inherited Metabolic Disorders ◽  
Storage Disorders

scholarly journals Reliability of enzyme assays in dried blood spots for diagnosis of 4 lysosomal storage disorders

2011 ◽  
Vol 01 (03) ◽  
pp. 58-64 ◽  
Author(s):  
Romina Ceci ◽  
Pablo N. de Francesco ◽  
Juan M. Mucci ◽  
Lorena N. Cancelarich ◽  
Carlos A. Fossati ◽  
...  
Keyword(s):  
Dried Blood Spots ◽  
Lysosomal Storage Disorders ◽  
Enzyme Assays ◽  
Lysosomal Storage ◽  
Blood Spots ◽  
Storage Disorders

scholarly journals Determination of Acid α-Glucosidase Protein: Evaluation as a Screening Marker for Pompe Disease and Other Lysosomal Storage Disorders

2000 ◽  
Vol 46 (9) ◽  
pp. 1318-1325 ◽  
Author(s):  
Kandiah Umapathysivam ◽  
Alison M Whittle ◽  
Enzo Ranieri ◽  
Colleen Bindloss ◽  
Elaine M Ravenscroft ◽  
...  
Keyword(s):  
Pompe Disease ◽  
Screening Program ◽  
Dried Blood Spots ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Total Acid ◽  
Blood Spots ◽  
Enzyme Replacement ◽  
Storage Disorders

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 α-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 α-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 α-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 α-glucosidase in plasma or dried blood spots.

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

2015 ◽  
Vol 35 (11) ◽  
pp. 1137-1147 ◽  
Author(s):  
Jyotsna Verma ◽  
Divya C. Thomas ◽  
Sandeepika Sharma ◽  
Geetu Jhingan ◽  
Renu Saxena ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Metabolic Disorders ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Inherited Metabolic Disorders ◽  
Storage Disorders

Rapid diagnostic testing procedures for lysosomal storage disorders: α-glucosidase and β-galactosidase assays on dried blood spots

2009 ◽  
Vol 402 (1-2) ◽  
pp. 38-41 ◽  
Author(s):  
Nicoletta Gasparotto ◽  
Rosella Tomanin ◽  
Anna Chiara Frigo ◽  
Gabriela Niizawa ◽  
Elisabetta Pasquini ◽  
...  
Keyword(s):  
Diagnostic Testing ◽  
Dried Blood Spots ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Rapid Diagnostic Testing ◽  
Testing Procedures ◽  
Blood Spots ◽  
Storage Disorders

Enzyme assays in dried-cell filter paper samples: A new tool for the identification of lysosomal storage disorders

2013 ◽  
Vol 108 (2) ◽  
pp. S30-S31
Author(s):  
Gabriel Civallero ◽  
Jurema De Mari ◽  
Marli Viapiana ◽  
Maira Burin ◽  
Roberto Giugliani
Keyword(s):  
Filter Paper ◽  
Lysosomal Storage Disorders ◽  
Enzyme Assays ◽  
Lysosomal Storage ◽  
Storage Disorders

Metabolic disorders

2016 ◽  
Author(s):  
Sathiji Nageshwaran ◽  
Heather C Wilson ◽  
Anthony Dickenson ◽  
David Ledingham
Keyword(s):  
Clinical Features ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Nutrient Deficiency ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Peroxisomal Disorders ◽  
Inborn Errors ◽  
Neurological Toxicity ◽  
Storage Disorders

This chapter discusses the clinical features and management of inborn errors of metabolism (lysosomal storage disorders, peroxisomal disorders, Wilson’s disease, porphyria, and phenylketonuria), vitamin and nutrient deficiency syndromes, and neurological toxicity syndromes.

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