Literature DB >> 22771013

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

Saumya S Jamuar1, Stephanie A Newton, Sanjay P Prabhu, Leah Hecht, Karen C Costas, Ann E Wessel, David J Harris, Irina Anselm, Gerard T Berry.   

Abstract

An 8-½ year old boy with glutaric aciduria type I (GA1) and chronic dystonia presented with severe rhabdomyolysis in association with a febrile illness. His clinical course was complicated by acute renal failure, cardiac arrest and hypoxic ischemic encephalopathy. As acute neurological decompensation is typically not seen in patients with GA1 beyond early childhood, this case report serves as an important reminder that patients with GA1 and status dystonicus may be at risk for acute life-threatening rhabdomyolysis, renal failure and further neurological injury at any age.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 22771013     DOI: 10.1016/j.ymgme.2012.05.018

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  5 in total

1.  The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors:  Stefan Kölker; Vassili Valayannopoulos; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; S P Nikolas Boy; Marlene Bøgehus Rasmussen; Peter Burgard; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Francesca Furlan; Florian Gleich; Maria Julieta González; Wanda Gradowska; Stephanie Grünewald; Tomas Honzik; Friederike Hörster; Hariklea Ioannou; Anil Jalan; Johannes Häberle; Gisela Haege; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Elaine Murphy; Hélène Ogier de Baulny; Carlos Ortez; Consuelo C Pedrón; Guillem Pintos-Morell; Luis Pena-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Allan M Lund; Angeles Garcia-Cazorla; Angeles Garcia Cazorla
Journal:  J Inherit Metab Dis       Date:  2015-04-15       Impact factor: 4.982

Review 2.  Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.

Authors:  Gu-Ling Qian; Fang Hong; Fan Tong; Hai-Dong Fu; Ai-Min Liu
Journal:  World J Pediatr       Date:  2016-06-29       Impact factor: 2.764

Review 3.  Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

Authors:  Nikolas Boy; Chris Mühlhausen; Esther M Maier; Jana Heringer; Birgit Assmann; Peter Burgard; Marjorie Dixon; Sandra Fleissner; Cheryl R Greenberg; Inga Harting; Georg F Hoffmann; Daniela Karall; David M Koeller; Michael B Krawinkel; Jürgen G Okun; Thomas Opladen; Roland Posset; Katja Sahm; Johannes Zschocke; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

4.  Glutaric Aciduria type I and acute renal failure - Coincidence or causality?

Authors:  Ben Pode-Shakked; Dina Marek-Yagel; Marina Rubinshtein; Itai M Pessach; Gideon Paret; Alexander Volkov; Yair Anikster; Danny Lotan
Journal:  Mol Genet Metab Rep       Date:  2014-04-17

Review 5.  Dystonic storm: a practical clinical and video review.

Authors:  Pichet Termsarasab; Steven J Frucht
Journal:  J Clin Mov Disord       Date:  2017-04-28
  5 in total

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