A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation

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

doi:10.1002/pbc.22046

A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation

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

Università Cattolica del Sacro Cuore

Risultato della ricerca: Contributo in rivista › Articolo in rivista

7 Citazioni (Scopus)

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

Lingua originale	English
pagine (da-a)	475-478
Numero di pagine	4
Rivista	PEDIATRIC BLOOD & CANCER
Volume	53
DOI	https://doi.org/10.1002/pbc.22046
Stato di pubblicazione	Pubblicato - 2009

Keywords

G6PD Italian mutation
favism

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10.1002/pbc.22046

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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",

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author = "Angelo Minucci and Paola Concolino and {De Luca}, Daniele and Bruno Giardina and Cecilia Zuppi and Capoluongo, {Ettore Domenico}",

year = "2009",

doi = "10.1002/pbc.22046",

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TY - JOUR

T1 - A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation

AU - Minucci, Angelo

AU - Concolino, Paola

AU - De Luca, Daniele

AU - Giardina, Bruno

AU - Zuppi, Cecilia

AU - Capoluongo, Ettore Domenico

PY - 2009

Y1 - 2009

N2 - 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

AB - 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

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KW - favism

KW - G6PD Italian mutation

KW - favism

UR - http://hdl.handle.net/10807/15875

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M3 - Article

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JO - PEDIATRIC BLOOD & CANCER

JF - PEDIATRIC BLOOD & CANCER

ER -

A Prolonged Neonatal Jaundice Associated With a Rare G6PD Mutation

Abstract

Keywords

OSS delle Nazioni Unite

Accesso al documento

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