β-Galactosidase Deficiency in Colombia: Report of 20 Patients Detected Using Dried Blood Spot Samples
J. inborn errors metab. screen
;
3: e140011, 2015. tab, graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090867
ABSTRACT
Abstract β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS). We aim to document the β-galactosidase deficiency in Colombia. We evaluated leukocytes from 1492 healthy Colombian individuals and 923 patients, referred between 2005 and August 2014. Dried blood spot (DBS) samples from the same number of patients were evaluated. β-Galactosidase was measured with 4-methylumbelliferyl-β-d-galactoside. As a control enzyme, the total hexosaminidase activity was also evaluated. We identified 14 patients with GM1 gangliosidosis, 5 patients with Morquio B, and 1 patient with I-cell disease. We could establish a reference value for Bgal in Colombian leukocyte samples. GM1 gangliosidosis is the main pathology associated with a direct deficiency of BGal. The high number of patients found with MPS IVB indicates that there are patients who could be misdiagnosed due to an unawareness of the disease.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
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:
2015
Tipo de documento:
Artigo
País de afiliação:
Colômbia
Instituição/País de afiliação:
Universidad Distrital Francisco Jose de Caldas/CO
/
Universidad de los Andes/CO
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