A prolonged neonatal jaundice associated with a rare G6PD mutation |
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Authors: | Angelo Minucci PhD Paola Concolino PhD Daniele De Luca MD Bruno Giardina PhD Cecilia Zuppi MD Ettore Capoluongo PhD |
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Affiliation: | 1. Institute of Biochemistry and Clinical Biochemistry, Laboratory of Clinical Molecular Biology, Catholic University of the Sacred Heart, Rome, Italy;2. Department of Anaesthesiology and Intensive Care Unit, Catholic University of the Sacred Heart, Rome, Italy |
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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. © 2009 Wiley‐Liss, Inc. |
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Keywords: | favism G6PD Italian mutation heterozygous females neonatal jaundice |
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