Results of the neonatal screening program for inborn errors of metabolism in Las Tunas
Keywords:
METABOLISM, INBORN ERRORS, INFANT, NEWBORNAbstract
Background: the screening of various neonatal diseases is very important for public health. Early detection and treatment of metabolic diseases reduce the morbidity and mortality gauge, permitting to improve the patients’ quality of life.
Objective: to describe the results of the main indicators of the neonatal screening program for inborn errors of metabolism, in the province of Las Tunas, from 2011 to 2014.
Methods: a descriptive and retrospective study was carried out using the statistical records of the neonatal screening program for inborn errors of metabolism in the province and during the time period defined above. Data were analyzed using descriptive statistics and expressed in whole numbers and percentage terms.
Results: in this period the provincial coverage increased above 98% and samples were taken at the fifth day, above 95 %. Poor quality sample taking did not exceed 2,2 % of the total and only the entry of samples with more than 72 hours to the laboratory behaved unfavorably, reaching 9 % in 2012. The first high determinations were more frequent for galactose. Two galactosemias, one phenylketonuria and two hyperphenylalaninemias were diagnosed in the period.
Conclusions: the coverage of the neonatal screening program for inborn errors of metabolism show stability in the period studied. The prevalence of inborn errors of metabolism in the province is low.Downloads
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