Actividad Enzimática de la Fosfomanosa Isomerasa en un Grupo Control (n 32) de 0,6-27 Años de Bogotá-Colombia
Fecha
Autores
Autor corporativo
Título de la revista
ISSN de la revista
Título del volumen
Editor
Compartir
Director
Altmetric
Resumen
The glycosylation defects type Ib (CDG-Ib) are of autosomal recessive inheritance, this desease is presented by the deficiency of the cytoplasmic phosphomannose isomerase enzyme (PMI, EC 5.3.1.8). It is characterized by hepatic fibrosis that leads to hepatic failure, hypoglycemia with hyperinsulinemia, coagulopathies with thrombosis and cerebrovascular accidents in some cases, hemorrhage, enteropathy with protein-losing and malnutrition due to intractable diarrhea. The objective of this study was to determine reference values of PMI specific enzyme activity in a sample colombian to diagnose this metabolic defect. We analized 32 samples, of which leukocytes were isolated by the dextran-heparin method of whole blood,It was lysed by sonication, the protein content was quantified by the Folin-Lowry method. A micro spectrophotometric diagnostic method was standardized and activity enzymatic activity was measured by three coupled reactions in which specific activity is directly proportional to the production of NADPH+H+. Descriptive and normality statistical analyzes by gender and age were performed for the control group with the XLSTAT program. The results show that there is not significant difference in enzymatic activity by gender on finding a p-value of 0.3954, nor by age p-value of 0.6788. We found that the specific activity value is higher than values reported with respect to other studies 551-2416 nmol / h. mg protein. This study will allow to initiate the diagnosis of patients deficient of the PMI in an early aged and thereby avoid complications related to this disease.This disorder offers an easy treatment and it is low cost with oral mannose supplementation. This will benefit the patient and his family by improving their quality of life, also the colombian health system by generating a positive cost-benefit relationship, making it a possible candidate enzyme for neonatal screening.