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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Camelier, M. Civallero, G. De Mari, J. Burin, M. Giugliani, R. |
| Description | Country affiliation: Brazil Author Affiliation: Camelier M ( Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil); Civallero G ( Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil); De Mari J ( Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil.); Burin M ( Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil.); Giugliani R ( Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil) |
| Abstract | BACKGROUND: Krabbe disease (KD) is an inherited lysosomal storage disease (LSD) caused by the deficiency of galactocerebrosidase (GALC) and is characterized by a severe and progressive leukodystrophy with death frequently before one year of life in the classical early-onset form. As a consequence of the enzyme defect, globoid cells containing undigested galactosylceramide are observed and are characteristic of the disease. Hematopoietic stem cell transplantation is the current treatment for this disease, with some success in the classical cases if performed very early in life. Definitive diagnosis of KD is generally accessed by determination of GALC in leukocytes or fibroblasts. For the last few years, dried-blood filter paper (DBFP) samples have been increasingly used for lysosomal enzyme assays. Originally, some lysosomal enzymes could not be tested in DBFP samples using fluorometric assays, including GALC, heparan-sulfamidase and a few others. Recently, we reported successful results using dried-leukocytes filter paper (DLFP) samples for heparan sulfamidase and ß-galactosidase. Extending these studies, we present now a new GALC assay on these type of samples. METHODS: Adapted leukocyte fluorometric assay was used for the evaluation of GALC in DLFP samples. RESULTS: Our results using this method showed a clear discrimination between GALC levels observed in KD patients and healthy controls. CONCLUSIONS: The assay is robust and reliable and could be adopted by reference laboratories for diagnosis of LSDs. It is expected that the use of DLPF would make it possible to diagnose patients living in isolated areas, where liquid samples usually have to be transported over several days and sometimes across country borders before reaching reference laboratories. |
| File Format | HTM / HTML |
| ISSN | 00098981 |
| Volume Number | 438 |
| e-ISSN | 18733492 |
| Journal | Clinica Chimica Acta |
| Language | English |
| Publisher | Elsevier |
| Publisher Date | 2015-01-01 |
| Publisher Place | Netherlands |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Clinical Chemistry Discipline Laboratory Medicine Biological Assay Galactosylceramidase Metabolism Leukocytes Enzymology Leukodystrophy, Globoid Cell Diagnosis Paper Case-control Studies Humans Prognosis Comparative Study Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Clinical Biochemistry Biochemistry |
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