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A prolonged neonatal jaundice associated with a rare G6PD mutation
Author(s) -
Minucci Angelo,
Concolino Paola,
De Luca Daniele,
Giardina Bruno,
Zuppi Cecilia,
Capoluongo Ettore
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22046
Subject(s) - medicine , jaundice , pediatrics , mutation , genetics , gene , biology
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. © 2009 Wiley‐Liss, Inc.