Resumen

REUBEN-MATAMOROS, Alejandra; CAMACHO-MATAMOROS, Natassia; QUESADA-ALVARADO, Jonessy  y  ACOSTA-GUALANDRI, Alejandra. Maternal 3-methylcrotonyl-coenzymeA carboxylase deficiency in Costa Rica. Acta méd. costarric [online]. 2014, vol.56, n.4, pp.174-176. ISSN 0001-6002.

Isolated 3-methylcrotonyl-coenzymeA carboxylase deficiency is an autosomal recessive disorder of leucine catabolism with considerable phenotypic heterogeneity. It is one of the most common inborn errors of metabolism with an incidence as high as 1 in 36.000 newborns. Women presenting this deficiency have been identified only by detection of abnormal results in newborn screening samples of their healthy babies. Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency should be taken into account when assessing a positive newborn screening result for 3-hydroxy-isovaleryl carnitine. The question of whether or not to provide periodic medical examination to children diagnosed with 3-methylcrotonyl-coenzymeA carboxylase deficiency in Costa Rica should also be addressed, since there are clinical studies sustaining that most of these patients remain asymptomatic.

Palabras clave : newborn screening; 3-methylcrotonylcoenzymeA carboxylase; 3-hydroxy-isovaleryl carnitine; leucine; mass spectrometry.

        · resumen en Español     · texto en Español     · Español ( pdf )