Resumen

SULDRUP, Niels Alejandro Federico; CESARI, Natalia; STREITENBERGER, Edgardo Raúl  y  NARETTO, Antonela. Glucose-6-phosphate dehydrogenase deficiency in newborns in Argentina. Acta bioquím. clín. latinoam. [online]. 2014, vol.48, n.2, pp.169-182. ISSN 0325-2957.

In Argentina, newborn screening is mandatory by law for certain conditions, but not for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency. G6PD deficiency is an X chromosome-linked disorder which causes, in most cases, neonatal jaundice, and even kernicterus and acute intravascular hemolysis in association with exposure to oxidizing substances, ingestion of certain foods, drugs or medications, some infections, or any other situation involving cellular stress. It is one of the most common enzymopathies in the world. The aim of this study was to determine the prevalence of G6PDH deficiency in Argentina. A total of 4.500 newborn male dried blood samples from different regions of the country were analyzed. The activity of the enzyme was quantitatively determined by an "in house" developed fluorometric method, measuring the rate of formation of NADPH. It was evaluated against a commercial method. A total of 13 (0.29%) children expressing total deficiency were found, while 33 (0.73%) demonstrated intermediate deficiency. This finding is important as such patients must receive a preventive and educational care. Screening for G6PDH deficiency is feasible and not only would it take early preventive measures against severe hemolysis in the neonatal period, but also other preventive measures later in life.

Palabras clave : Glucose-6-phosphate dehydrogenase deficiency; Newborn screening.

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