Examinando por Materia "Enzimas - Análisis"
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Ítem Actividad Enzimática de la Fosfomanosa Isomerasa en un Grupo Control (n 32) de 0,6-27 Años de Bogotá-ColombiaSamacá Martín, Jhoan Andrés; Ayala Fajardo, AdisThe 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.Ítem Estandarización de un método microespectrofotométrico para la determinación de la actividad enzimática de la Fosfomanomutasa 2 en una muestra control de Bogotá ColombiaAvila Moreno, Lina Marcela; Agudelo Peñaloza, Wilson Samuel; Ayala Fajardo, AdisDeficiency in glycosylation PMM2-CDG (CDG Ia) is an autosomal recessive disease, caused by damage of the cytoplasmic enzyme phosphomanomutase 2 (E.C.5.4.2.8), which catalyzes the conversion of mannose-1-phosphate to mannose-6 -phosphate, essential for N-glycosylation. This disease is multisystemic in nature characterized by neurological, digestive, nephrological, hepatic, hematological and cardiac failures. In Colombia there are no clinical laboratories that perform the enzymatic test for diagnosis, nor are there studies that report intervals of enzymatic activity, so the objective of this study was to establish the reference values of the specific activity of PMM2. The microspectrophotometric diagnostic method was standardized with 50 samples of voluntary controls, for this the leukocytes were extracted by the dextran-heparin method from whole blood, sonicated to extract the enzyme of interest and the protein content was quantified by the method of Folin-Lowry. To determine the integrity of the samples, the lysosomal enzyme N-Acetylgalactosamine-6-sulfatosulfatase was used as a control. Statistical analyzes allowed us to verify that there are no significant differences between gender or age when finding a p-value 0.12 and 0.6537 respectively, under a significance level of 0.05. A specific activity value was found in the upper limit higher than reported with respect to other investigations. The reference value of enzymatic activity determined in this study was 6,546-48,023 nmol / h. mg of protein. The activity values obtained in this control group will allow to start the diagnosis of PMM2 deficient patients from neonatal age and thus contribute to the Colombian health system, as well as to give a correct management by the medical staff, as well as the family and thus improve The quality of life of these patients.