Abstract

OLIVA LOPEZ, Yinet  and  GONZALEZ GARCIA, Raúl. Program of detection of innate errors of metabolism, Minas de Matahambre 2008-2012. Rev Ciencias Médicas [online]. 2014, vol.18, n.1, pp.66-75. ISSN 1561-3194.

Introduction: innate errors of metabolism are a very heterogeneous group of congenital diseases, determined by the blocking a metabolic passing due to mutation of genes responsible for the operation. Autosomal recessive inheritance and in some cases X-linked, early diagnosis and proper use of all possible treatment options is critical to assure the survival and the best possible quality of life of affected individuals. Objective: to describe the results of the screening program of innate errors of metabolism for five years in the town of Minas de Matahambre. Material and Methods: a retrospective descriptive study was conducted in the town of Minas de Matahambre from 2008 to 2012; the total number of infants were studied by neonatal screening. Results: a total of 1822 infants were studied, reaching coverage of 99.3%. There is a greater number of first determinations: galactose and 17 hydroxyprogesterone were not detected in patients with confirmed congenital adrenal hyperplasia, phenylketonuria, galactosemia, biotinidase deficiency and congenital hypothyroidism cases. Conclusions: the present work program results in detection of innate errors of metabolism in the town as being described, allowing accurate diagnosis, proper medical treatment and appropriate genetic counseling for the family.

Keywords : Metabolism inborn errors [epidemiology]; Child health services.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )