Literature DB >> 16136341

[Patients with ornithine transcarbamylase deficiency. Anaesthesiological and intensive care management].

J Schmidt1, M Schroth, A Irouschek, T Birkholz, M Kurzai, S Kröber, M Meisner, S Albrecht.   

Abstract

Ornithine transcarbamylase deficiency (OTCD) is the most common inborn urea cycle disorder. Patients with OTCD are at risk of acute metabolic decompensation with hyperammonemia and subsequent encephalopathy, coma and death. Symptoms may be triggered by infections, drugs and stress, evoked by trauma, pain, fear, surgery and anaesthesia or by episodes of protein catabolism, i.e. fasting-induced, post partum or during gastrointestinal bleeding. Several specific considerations must be made for anaesthetic and intensive care management in patients with this disease in order to avoid metabolic decompensation. We report the intensive care management of the first manifestation of late-onset OTCD in a 16-year-old girl and a course of inconspicuous general anaesthesia with midazolam, s-ketamine, fentanyl and isoflurane in a 22-year-old girl with known OTCD.

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Year:  2005        PMID: 16136341     DOI: 10.1007/s00101-005-0911-5

Source DB:  PubMed          Journal:  Anaesthesist        ISSN: 0003-2417            Impact factor:   1.041


  18 in total

1.  Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman.

Authors:  T Perpoint; L Argaud; Q Blanc; D Robert
Journal:  Intensive Care Med       Date:  2001-11-07       Impact factor: 17.440

2.  [Living related liver transplantation for patients with ornithine transcarbamylase deficiency].

Authors:  M Tazuke; M Murakawa; S Nakao; K Mukaida; H Toda; K Mori
Journal:  Masui       Date:  1997-06

3.  Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding.

Authors:  M Trivedi; S Zafar; M J Spalding; S Jonnalagadda
Journal:  J Clin Gastroenterol       Date:  2001-04       Impact factor: 3.062

4.  [Anesthetic considerations in a woman with congenital hyperammonemia].

Authors:  J R Pérez Valdivieso; C L Mbongo Bubakala; R Calderón Pelayo; L A López Olaondo; M Bes Rastrollo
Journal:  Rev Esp Anestesiol Reanim       Date:  2002-04

Review 5.  Ornithine transcarbamylase deficiency: pathogenesis of the cerebral disorder and new prospects for therapy.

Authors:  A Michalak; R F Butterworth
Journal:  Metab Brain Dis       Date:  1997-09       Impact factor: 3.584

6.  Treatment of ornithine transcarbamylase deficiency in girls by auxiliary liver transplantation: conceptual changes in a living-donor program.

Authors:  M Kasahara; T Kiuchi; K Uryuhara; Y Ogura; K Takakura; H Egawa; K Asonuma; S Uemoto; Y Inomata; K Tanaka
Journal:  J Pediatr Surg       Date:  1998-12       Impact factor: 2.545

7.  Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations.

Authors:  Annick Legras; François Labarthe; François Maillot; Marie-Ange Garrigue; Achille Kouatchet; Hélène Ogier de Baulny
Journal:  Crit Care Med       Date:  2002-01       Impact factor: 7.598

8.  Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma.

Authors:  P H Arn; E R Hauser; G H Thomas; G Herman; D Hess; S W Brusilow
Journal:  N Engl J Med       Date:  1990-06-07       Impact factor: 91.245

9.  Valproate-induced hyperammonemia.

Authors:  M L Batshaw; S W Brusilow
Journal:  Ann Neurol       Date:  1982-03       Impact factor: 10.422

10.  [Interdisciplinary treatment of early-onset ornithine transcarbamylase (OTC) deficiency. Two case reports and a review].

Authors:  A Hübler; J Seidel; L Patzer; K Bellstedt; D Schramm
Journal:  Z Geburtshilfe Neonatol       Date:  2001 Nov-Dec       Impact factor: 0.685

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  2 in total

1.  [Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].

Authors:  M Bürle; H Mende; U Plum; M Bluthardt; M Walka; G Geldner
Journal:  Anaesthesist       Date:  2009-06       Impact factor: 1.041

2.  Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.

Authors:  Marie-Caroline Husson; Manuel Schiff; Alain Fouilhoux; Aline Cano; Dries Dobbelaere; Anais Brassier; Karine Mention; Jean-Baptiste Arnoux; François Feillet; Brigitte Chabrol; Nathalie Guffon; Caroline Elie; Pascale de Lonlay
Journal:  Orphanet J Rare Dis       Date:  2016-09-23       Impact factor: 4.123

  2 in total

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