A prolonged neonatal jaundice associated with a rare G6PD mutation.
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."
Minucci
Angelo
A
Institute of Biochemistry and Clinical Biochemistry, Laboratory of Clinical Molecular Biology, Catholic University of the Sacred Heart, Rome, Italy. angelo.minucci@virgilio.it
Concolino
Paola
P
De Luca
Daniele
D
Giardina
Bruno
B
Zuppi
Cecilia
C
Capoluongo
Ettore
E
D005878:Gilbert Disease / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000235:genetics*; D008297:Male; D009154:Mutation
D005954:Glucosephosphate Dehydrogenase