Glucose-6-phosphate dehydrogenase (G6PD), a X-linked hereditary deficiency, is one of most common clinically significant enzyme defects. Despite its largely known role in acute and life-threatening haemolytic crises, G6PD deficiency may be also associated with neonatal jaundice that, when severe and untreated, may lead to the potential of bilirubin encephalopathy. A prolonged neonatal jaundice was found to be associated with a rare G6PD mutation (c.383T>G; p.L128R), the latter simply annotated in literature database. In this article, we clinically and phenotipically describe a case of an Italian neonate carrying the c.383T>G G6PD mutation. Finally, we named this variant "G6PD Salerno." Pediatr Blood Cancer 2009;53: 475-478

Minucci, A., Concolino, P., De Luca, D., Giardina, B., Zuppi, C., Capoluongo, E. D., A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation, <<PEDIATRIC BLOOD & CANCER>>, 2009; 53 (3): 475-478. [doi:10.1002/pbc.22046] [http://hdl.handle.net/10807/15875]

A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation

Minucci, Angelo;Concolino, Paola;De Luca, Daniele;Giardina, Bruno;Zuppi, Cecilia;Capoluongo, Ettore Domenico
2009

Abstract

Glucose-6-phosphate dehydrogenase (G6PD), a X-linked hereditary deficiency, is one of most common clinically significant enzyme defects. Despite its largely known role in acute and life-threatening haemolytic crises, G6PD deficiency may be also associated with neonatal jaundice that, when severe and untreated, may lead to the potential of bilirubin encephalopathy. A prolonged neonatal jaundice was found to be associated with a rare G6PD mutation (c.383T>G; p.L128R), the latter simply annotated in literature database. In this article, we clinically and phenotipically describe a case of an Italian neonate carrying the c.383T>G G6PD mutation. Finally, we named this variant "G6PD Salerno." Pediatr Blood Cancer 2009;53: 475-478
Inglese
Minucci, A., Concolino, P., De Luca, D., Giardina, B., Zuppi, C., Capoluongo, E. D., A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation, <<PEDIATRIC BLOOD & CANCER>>, 2009; 53 (3): 475-478. [doi:10.1002/pbc.22046] [http://hdl.handle.net/10807/15875]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/15875
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