Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience
| Autor: | Karen Barbosa Müller, Ana Maria Martins, Vânia D'Almeida, Vanessa Gonçalves Pereira, Mayra D.B. Rodrigues |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Histology Adolescent Mucopolysaccharidosis I Pathology and Forensic Medicine Iduronidase Young Adult Mucopolysaccharidosis type I Reference Values Glycogen storage disease type II lcsh:Pathology medicine Humans Aged Aged 80 and over chemistry.chemical_classification Blood Specimen Collection Gaucher Disease Alpha-galactosidase biology Glycogen Storage Disease Type II Research Reproducibility of Results alpha-Glucosidases General Medicine Clinical Enzyme Tests Middle Aged beta-Galactosidase medicine.disease Fabry disease Enzymes Glucosylceramidase Lysosomal Storage Diseases Enzyme chemistry alpha-Galactosidase biology.protein Fabry Disease Female Lysosomes Brazil lcsh:RB1-214 |
| Zdroj: | Diagnostic Pathology, Vol 5, Iss 1, p 65 (2010) Diagnostic Pathology |
| ISSN: | 1746-1596 |
| DOI: | 10.1186/1746-1596-5-65 |
| Popis: | Background Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type I, Fabry, Gaucher and Pompe disease, using dried blood spots on filter paper (DBS) samples in a Brazilian population. Results Reference activity values were obtained from healthy volunteers samples for alpha-galactosidase A (4.57 ± 1.37 umol/L/h), beta-glucosidase (3.06 ± 0.99 umol/L/h), alpha-glucosidase (ratio: 13.19 ± 4.26; % inhibition: 70.66 ± 7.60), alpha-iduronidase (3.45 ± 1.21 umol/L/h) and beta-galactosidase (14.09 ± 4.36 umol/L/h). Conclusion Reference values of five lysosomal enzymes were determined for a Brazilian population sample. However, as our results differ from other laboratories, it highlights the importance of establishing specific reference values for each center. |
| Databáze: | OpenAIRE |
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