Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis.

Abstract:

:We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD Cincinnati (c.1037A > T, p.N346I), found in combination with G6PD Gastonia (c.637G > T, p.V213L) in an infant who presented with neonatal cholestasis. The G6PD Cincinnati mutation results in a non-conservative amino acid substitution at the tetramer interface disturbing its formation, as seen by native gel electrophoresis and immunoblotting. G6PD Gastonia disrupts dimerization of the enzyme and by itself causes chronic non-spherocytic hemolytic anemia. The G6PD Cincinnati mutation may have aggravated the clinical picture of G6PD Gastonia with the result of severe perinatal hemolysis causing cholestasis and associated liver injury.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Mizukawa B,George A,Pushkaran S,Weckbach L,Kalinyak K,Heubi JE,Kalfa TA

doi

10.1002/pbc.22744

subject

Has Abstract

pub_date

2011-05-01 00:00:00

pages

840-2

issue

5

eissn

1545-5009

issn

1545-5017

journal_volume

56

pub_type

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