Literature DB >> 12640389

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

Jonathan D Picker1, Ana C Puga, Harvey L Levy, Deborah Marsden, Vivian E Shih, Umberto Degirolami, Keith L Ligon, Stephen D Cederbaum, Rita M Kern, Gerald F Cox.   

Abstract

We describe a rare and lethal case of arginase deficiency in a 2-day-old female infant with encephalopathy and cerebral edema. The levels of glutamine and arginine but not ammonia were markedly elevated, lending support to the "glutamine hypothesis" as the mechanism of cerebral edema in urea cycle defects.

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Year:  2003        PMID： 12640389     DOI： 10.1067/mpd.2003.97

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  19 in total

1.  Hyperargininemia: a family with a novel mutation in an unexpected site.

Authors:  Y Haimi Cohen; R Bargal; M Zeigler; T Markus-Eidlitz; V Zuri; A Zeharia
Journal:  JIMD Rep       Date:  2011-12-21

2.  The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.

Authors:  Nina Hediger; Markus A Landolt; Carmen Diez-Fernandez; Martina Huemer; Johannes Häberle
Journal:  J Inherit Metab Dis       Date:  2018-03-08       Impact factor: 4.982

3.  A Case of Hyperargininaemia Presenting at Unusually Low Age.

Authors:  Vanita Lal; Daisy Khera; Garima Gupta; Kuldeep Singh; Praveen Sharma
Journal:  J Clin Diagn Res       Date:  2017-07-01

4.  Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Authors:  Shailly Jain-Ghai; Sandesh C Sreenath Nagamani; Susan Blaser; Komudi Siriwardena; Annette Feigenbaum
Journal:  Mol Genet Metab       Date:  2011-07-13       Impact factor: 4.797

5.  Neonatal cholestasis: an uncommon presentation of hyperargininemia.

Authors:  Esmeralda Gomes Martins; Ermelinda Santos Silva; Silvia Vilarinho; Jean Marie Saudubray; Laura Vilarinho
Journal:  J Inherit Metab Dis       Date:  2011-01-13       Impact factor: 4.982

Review 6.  Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.

Authors:  Fernando Scaglia; Brendan Lee
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908

7.  Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy.

Authors:  Eun K Lee; Chuhong Hu; Ragini Bhargava; Nora Rozengurt; David Stout; Wayne W Grody; Stephen D Cederbaum; Gerald S Lipshutz
Journal:  Mol Ther       Date:  2012-07-03       Impact factor: 11.454

8.  Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.

Authors:  S Scholl-Bürgi; S Baumgartner Sigl; J Häberle; E Haberlandt; K Rostásy; C Ertl; U Eichinger-Öttl; P Heinz-Erian; D Karall
Journal:  J Inherit Metab Dis       Date:  2008-12-06       Impact factor: 4.982

9.  Early-onset hyperargininaemia: a severe disorder?

Authors:  M Schiff; J-F Benoist; M L Cardoso; M Elmaleh-Bergès; P Forey; J Santiago; H Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  2009-04-20       Impact factor: 4.982

10.  Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.

Authors:  Jennifer Kasten; Chuhong Hu; Ragini Bhargava; Hana Park; Denise Tai; James A Byrne; Bart Marescau; Peter P De Deyn; Lisa Schlichting; Wayne W Grody; Stephen D Cederbaum; Gerald S Lipshutz
Journal:  Mol Genet Metab       Date:  2013-07-06       Impact factor: 4.797
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