INTRODUCTION: Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide. CASE PRESENTATION: Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light. CONCLUSION: Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.
INTRODUCTION:Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide. CASE PRESENTATION: Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light. CONCLUSION: Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.
Authors: N García-Magallanes; F Luque-Ortega; E M Aguilar-Medina; R Ramos-Payán; C Galaviz-Hernández; J G Romero-Quintana; L Del Pozo-Yauner; H Rangel-Villalobos; E Arámbula-Meraz Journal: J Genet Date: 2014-08 Impact factor: 1.166
Authors: Wuelton M Monteiro; Gabriel P Franca; Gisely C Melo; Amanda L M Queiroz; Marcelo Brito; Henry M Peixoto; Maria Regina F Oliveira; Gustavo A S Romero; Quique Bassat; Marcus V G Lacerda Journal: Malar J Date: 2014-02-25 Impact factor: 2.979
Authors: Wuelton M Monteiro; Fernando F A Val; André M Siqueira; Gabriel P Franca; Vanderson S Sampaio; Gisely C Melo; Anne C G Almeida; Marcelo A M Brito; Henry M Peixoto; Douglas Fuller; Quique Bassat; Gustavo A S Romero; Oliveira Maria Regina F; Lacerda Marcus Vinícius G Journal: Mem Inst Oswaldo Cruz Date: 2014-08-19 Impact factor: 2.743
Authors: Amanda J Wheeler; Nina A Dobbin; Marie-Eve Héroux; Mandy Fisher; Liu Sun; Cheryl F Khoury; Russ Hauser; Mark Walker; Tim Ramsay; Jean-François Bienvenu; Alain LeBlanc; Eric Daigle; Eric Gaudreau; Patrick Belanger; Mark Feeley; Pierre Ayotte; Tye E Arbuckle Journal: Environ Health Date: 2014-04-27 Impact factor: 5.984