Literature DB >> 29961243

Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia.

Husniye Yucel1, Çiğdem Seher Kasapkara2, Meltem Akcaboy3, Erhan Aksoy4, Gülseren Evirgen Sahin5, Betul Emine Derinkuyu6, Saliha Senel1, Serdar Ceylaner7.   

Abstract

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.

Entities:  

Keywords:  Children; Hyperargininemia; Recurrent hepatic failure; Status epilepticus

Mesh：

Substances：

Year:  2018        PMID： 29961243     DOI： 10.1007/s11011-018-0281-8

Source DB:  PubMed          Journal:  Metab Brain Dis        ISSN： 0885-7490            Impact factor:   3.584


  9 in total

1.  Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.

Authors:  Yan Zhang; Yuval E Landau; David T Miller; Deborah Marsden; Gerard T Berry; Mark D Kellogg
Journal:  Clin Biochem       Date:  2012-08-23       Impact factor: 3.281

2.  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

3.  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

4.  Argininemia presenting with progressive spastic diplegia.

Authors:  Beom Hee Lee; Hye Young Jin; Gu-Hwan Kim; Jin-Ho Choi; Han-Wook Yoo
Journal:  Pediatr Neurol       Date:  2011-03       Impact factor: 3.372

Review 5.  Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.

Authors:  A Schlune; S Vom Dahl; D Häussinger; R Ensenauer; E Mayatepek
Journal:  Amino Acids       Date:  2015-06-27       Impact factor: 3.520

6.  Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

Authors:  Michael S Oldham; John W VanMeter; Kyle F Shattuck; Stephen D Cederbaum; Andrea L Gropman
Journal:  Pediatr Neurol       Date:  2010-01       Impact factor: 3.372

7.  Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Authors:  Giovanni Baranello; Enrico Alfei; Diego Martinelli; Manuela Rizzetto; Fabiana Cazzaniga; Carlo Dionisi-Vici; Cinzia Gellera; Barbara Castellotti
Journal:  Pediatr Neurol       Date:  2014-06-04       Impact factor: 3.372

8.  Arginase deficiency with new phenotype and a novel mutation: contemporary summary.

Authors:  Jane Pui Ki Tsang; Wai Lun Poon; Ho Ming Luk; Cheuk Wing Fung; Chor Kwan Ching; Chloe Miu Mak; Ching Wan Lam; Tak Shing Siu; Sidney Tam; Virginia C N Wong
Journal:  Pediatr Neurol       Date:  2012-10       Impact factor: 3.372

9.  Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report.

Authors:  Nora King; Romina Alvizures; Pablo García; Ann Wessel; Peter Rohloff
Journal:  BMC Pediatr       Date:  2016-08-22       Impact factor: 2.125
  9 in total
  1 in total

1.  Biomarkers for liver disease in urea cycle disorders.

Authors:  Sandesh C S Nagamani; Saima Ali; Rima Izem; Deborah Schady; Prakash Masand; Benjamin L Shneider; Daniel H Leung; Lindsay C Burrage
Journal:  Mol Genet Metab       Date:  2021-04-08       Impact factor: 4.204
  1 in total

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