Abstract

ROJAS BERNAL, Daniel Fernando et al. Diagnosis of inborn errors of metabolism by neonatal screening at the Provincial Center of Medical Genetics of Santiago de Cuba. MEDISAN [online]. 2013, vol.17, n.9, pp.5035-5041. ISSN 1029-3019.

A descriptive and cross sectional study was conducted in 20 children from 0 to 5 years of age with inborn errors of metabolism (phenylketonuria, galactosemia, biotinidase deficiency, congenital adrenal hyperplasia and congenital hypothyroidism), coming from all the municipalities of Santiago de Cuba, who were diagnosed through neonatal screening and attended in the Provincial Center of Medical Genetics from 2006 to 2011, in order to characterize them according to some clinical and epidemiological variables. In Santiago de Cuba province a low rate of incidence of congenital metabolic disorders diagnosed in neonatal screening was obtained, with a higher frequency of congenital hypothyroidism (55.0%). Similarly, patients had a few clinical manifestations, which also were mild. The results of the series revealed the presence of an early diagnosis and treatment, with adequate pediatric care.

Keywords : inborn errors of metabolism; congenital hypothyroidism; children; neonatal screening; genetics centers.

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