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Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases
- Source :
- Clinica Chimica Acta. 446:218-220
- Publication Year :
- 2015
- Publisher :
- Elsevier BV, 2015.
-
Abstract
- Background Lysosomal storage diseases (LSD) are a group of genetic conditions which could present a vast spectrum of abnormalities that may include skeletal abnormalities, organ dysfunction, neuronal involvement, and tissue accumulation of complex molecules, among other manifestations. Definitive diagnosis of LSD is generally obtained by specific enzyme assays performed in leukocytes, fibroblasts, or more recently, dried-blood filter paper (DBFP) samples. Methods We recently introduced dried-leukocytes filter paper (DLFP) as an alternative source of enzyme to assay heparan sulfamidase and galactocerebrosidase activities, which could not be measured in DBFP samples using fluorometric methods. We present a new fluorometric methods on DLFP samples, for evaluation of α-glucosidase (GAA), β-glucosidase (GBA), and N-acetylgalactosamine-6-sulfatase (GALNS) activities, key enzyme assays for the identification of patients with Pompe disease (PD), Gaucher disease (GD), and Morquio A disease (MD), respectively. Results We show a clear discrimination between confirmed PD, GD, and MD patients and healthy controls. Conclusions We conclude that the assays of GAA, GBA, and GALNS on DLFP are reliable and useful methods for the identification of PD, GD, and MD diseases, respectively. As sample preparation is feasible in standard biochemical laboratories and transportation is very simple, it could enable patients living in remote areas to be investigated, diagnosed and eventually treated with the specific therapies available for these diseases.
- Subjects :
- Paper
Pathology
medicine.medical_specialty
Clinical Biochemistry
Disease
Biochemistry
Heparan sulfamidase
Leukocytes
medicine
Humans
Desiccation
Enzyme Assays
Reagent Strips
chemistry.chemical_classification
Gaucher Disease
Filter paper
biology
Glycogen Storage Disease Type II
Chemistry
Galactocerebrosidase
beta-Glucosidase
Biochemistry (medical)
Organ dysfunction
Mucopolysaccharidosis IV
alpha-Glucosidases
General Medicine
Chondroitinsulfatases
Enzyme assay
Enzyme
Case-Control Studies
Immunology
biology.protein
medicine.symptom
Skeletal abnormalities
Subjects
Details
- ISSN :
- 00098981
- Volume :
- 446
- Database :
- OpenAIRE
- Journal :
- Clinica Chimica Acta
- Accession number :
- edsair.doi.dedup.....6580938cb0ce4228f3ed83b87b1b3200