Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects
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Published on: June 11, 2018
Alfredo Uribe1, Roberto Giugliani
1Centro de Investigaciones en Bioquimica (CIBI), Departamento de Ciencias Biologicas, Universidad de Los Andes, Carrera 1 No. 18A - 12 of. M-302, Bogota, Colombia, jeuribe@uniandes.edu.co.
Insights
This study screened high-risk patients for lysosomal storage disorders (LSDs) in Colombia using dried blood spots. A new micromethodology identified 242 patients with enzyme deficiencies, enabling timely diagnoses and potential treatment.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lysosomal storage disorders (LSDs) are rare, heterogeneous inherited diseases.
- Diagnostic challenges in Colombia limit timely identification and treatment of LSDs.
- Current diagnostic methods are complex and require specialized laboratories.
Purpose of the Study:
- To establish a cost-effective and accessible diagnostic protocol for LSDs in Colombia.
- To screen high-risk patients for LSDs using dried blood spots (DBS).
- To identify patients with enzyme deficiencies indicative of specific LSDs.
Main Methods:
- Analysis of enzyme activities (α-galactosidase A, α-glucosidase, etc.) in DBS using fluorometric micromethods.
- Establishment of reference values for a control population.
- Screening of 242 high-risk patients over a 7-year period.
Main Results:
- Established reference values for key lysosomal enzymes.
- Identified 242 patients with enzyme deficiencies.
- Diagnosed specific LSDs including Fabry disease, Pompe disease, Gaucher disease, and others.
Conclusions:
- The developed protocol is effective for widespread LSD diagnosis in Colombia.
- This approach facilitates early identification of LSD patients.
- Enables access to existing therapies for diagnosed individuals.
Abstract:
Lysosomal storage disorders (LSDs) are a very heterogeneous group of hereditary disorders. The diagnostic process usually involves complex sampling, processing, testing, and validation procedures, performed by specialized laboratories only, which causes great limitations in reaching a diagnosis for patients affected by these diseases.There are few studies about LSDs in Colombia. The diagnostic limitations often make medical practitioners disregard the possibility of these disorders while diagnosing their patients. The current study documents the results of a 7-year screening in high-risk patients, aimed to detect LSDs using dried blood spots (DBS) collected on filter paper, with a micromethodology that facilitates diagnosis even with a large number of samples.The activities of α-galactosidase A, α glucosidase, α-L-iduronidase, arylsulfatase B, β-galactosidase, β-glucosidase, total hexosaminidase, iduronate sulfatase, and chitotriosidase were analyzed in high-risk patients for lysosomal disease. The catalytic activity was evaluated with fluorometric micromethods using artificial substrates marked with 4-methylumbelliferone.The reference values for a control population were established for the enzymes listed above, and 242 patients were found to have an enzyme deficiency, guiding to the following diagnoses: Fabry disease (n = 31), Pompe disease (n = 16), Hurler Syndrome (n = 15), Maroteaux-Lamy Syndrome (n = 34), GM1 Gangliosidosis (n = 10), Morquio B (n = 1), Gaucher disease (n = 101), Sandhoff disease (n = 1), Mucolipidosis (n = 2), and Hunter Syndrome (n = 31). In conclusion, this protocol provides a comprehensive diagnostic approach which could be carried out in Colombia and made it available to medical services spread around the country, enabling the identification of a large number of patients affected by LSDs, which could potentially benefit from the therapeutic tools already available for many of these diseases.
