Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Christian Staufner
(1)
,
Tobias B Haack
(2, 3)
,
Marlies G Köpke
(3)
,
Beate K Straub
(1)
,
Stefan Kölker
(1)
,
Christian Thiel
(1)
,
Peter Freisinger
(4)
,
Ivo Barić
(5)
,
Patrick J Mckiernan
(6)
,
Nicola Dikow
(1)
,
Inga Harting
(1)
,
Flemming Beisse
(1)
,
Peter Burgard
(1)
,
Urania Kotzaeridou
(1)
,
Dominic Lenz
(1)
,
Joachim Kühr
(4)
,
Urban Himbert
(7)
,
Robert W Taylor
(8)
,
Felix Distelmaier
(9)
,
Jerry Vockley
(10)
,
Lina Ghaloul-Gonzalez
(10)
,
John A Ozolek
(10)
,
Johannes Zschocke
(11)
,
Alice Kuster
(12)
,
Anke Dick
(13)
,
Anib M Das
(14)
,
Thomas Wieland
(3)
,
Caterina Terrile
(3)
,
Tim M Strom
(2, 3)
,
Thomas Meitinger
(2, 3)
,
Holger Prokisch
(2, 3)
,
Georg F Hoffmann
(1)
1
University Hospital of Heidelberg
2 Technische Universitat Muenchen
3 Helmholtz Zentrum München = German Research Center for Environmental Health
4 Children's Hospital
5 University of Zagreb
6 Birmingham Children’s Hospital
7 Children's Hospital St. Elisabeth
8 Newcastle University
9 University Children's Hospital
10 University of Pittsburgh School of Medicine
11 IMU - Innsbruck Medical University = Medizinische Universität Innsbruck
12 PhAN - Physiopathologie des Adaptations Nutritionnelles
13 University Hospital of Würzburg
14 MHH - Medizinische Hochschule Hannover = Hannover Medical School
2 Technische Universitat Muenchen
3 Helmholtz Zentrum München = German Research Center for Environmental Health
4 Children's Hospital
5 University of Zagreb
6 Birmingham Children’s Hospital
7 Children's Hospital St. Elisabeth
8 Newcastle University
9 University Children's Hospital
10 University of Pittsburgh School of Medicine
11 IMU - Innsbruck Medical University = Medizinische Universität Innsbruck
12 PhAN - Physiopathologie des Adaptations Nutritionnelles
13 University Hospital of Würzburg
14 MHH - Medizinische Hochschule Hannover = Hannover Medical School
Résumé
BackgroundAcute liver failure (ALF) in infancy and child-hood is a life-threatening emergency and in about 50 % theetiology remains unknown. Recently biallelic mutations inNBASwere identified as a new molecular cause of ALF withonset in infancy, leading torecurrent acute liver failure(RALF).MethodsThe phenotype and medical history of 14 individ-uals with NBAS deficiency was studied in detail and function-al studies were performed on patients’fibroblasts.