Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia
J. inborn errors metab. screen
;
9: e20200023, 2021. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1286998
ABSTRACT
Abstract Sanfilippo B is a lysosomal disorder characterized by the pathological accumulation of heparan sulfate. It is caused by mutations in the NAGLU gene that codes for the alpha-N-acetylglucosaminidase enzyme. The objective of this study was to determine the reference values and frequency of Sanfilippo B in Colombia through an enzyme analysis of leukocytes extracts. We aim to inform the community and the health system so that they can work in a preventive way, providing an early diagnosis of patients and thus providing an appropriate management of the symptoms. We carried out an endpoint assay that indirectly quantifies NAGLU activity through the cleavage of 4-methylumbelliferone from the 4-methylumbelliferyl-2-acetamido-2-deoxy-α-D-glucopyranoside substrate. The activity of 463 healthy volunteers (Range 0.6 - 4 nmol/mg/h, Median 1.69 +/- 0.73) as well as 462 patients referred for clinical suspicion, was calculated. From the last group, 7 cases turned out to be positive (Range 0 - 0.24 nmol/mg/h, Median 0.13 +/- 0.09). The cut-off point according to ROC analysis between affected patients and controls was 0.42 nmol/mg/h. To our knowledge, this study is the first in Colombia where an estimated frequency of Sanfilippo type B is calculated by providing enzyme activity ranges and a cut-off point.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Tipo de estudo:
Estudo de rastreamento
País/Região como assunto:
América do Sul
/
Colômbia
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2021
Tipo de documento:
Artigo
País de afiliação:
Colômbia
Instituição/País de afiliação:
Universidad de los Andes/CO
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