Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA
J. inborn errors metab. screen
;
11: e2022022, 2023. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1421994
ABSTRACT
Abstract Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal N-sulphoglucosamine sulphohydrolase, which is one of four enzymes involved in heparan sulfate degradation. Traditional methods used for MPS IIIA diagnostics usually constitute of selective screening, based on the analysis of urinary glycosaminoglycans, further enzymatic assays in leukocytes, and mutation analysis. Nowadays, some LSDs, including mucopolysaccharidoses, can be precisely diagnosed by mass spectrometry-based techniques. Up to this date, there are no comprehensive studies of MPS IIIA diagnostics by MALDI-TOF analysis of free oligosaccharides in urine published. In the presented work, MALDI-TOF/TOF analysis of permethylated oligosaccharides was performed to obtain the set of glyco-biomarkers that together form the specific fingerprint of this disease. Early and accurate diagnostics of MPS IIIA is crucial to stabilize the progressive cellular damage and improve the overall well-being of patients.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2023
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Eslováquia
Instituição/País de afiliação:
Centre for Inherited Metabolic Disorders/SK
/
Centre of Glycomics/SK
/
Comenius University in Bratislava/SK
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