Literature DB >> 18500574

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment.

J-U Schlump1, C Perot, K Ketteler, M Schiff, E Mayatepek, U Wendel, U Spiekerkoetter.   

Abstract

Neurological crises do not occur in patients with tyrosinaemia type I treated with NTBC. We report an 8 month-old boy with severe neurological crisis after interruption of NTBC treatment including progressive ascending polyneuropathy and diaphragmatic paralysis, arterial hypertension, respiratory distress requiring mechanical ventilation who later also developed impaired liver function and tubulopathy. After re-introduction of NTBC the patient slowly regained normal neurological functions and recovered completely.

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Year:  2008        PMID： 18500574     DOI： 10.1007/s10545-008-0807-z

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

Review 1.  The pathophysiology and treatment of hereditary tyrosinemia type 1.

Authors:  M Grompe
Journal:  Semin Liver Dis       Date:  2001-11       Impact factor: 6.115

2.  Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment.

Authors:  F J van Spronsen; Y Thomasse; G P Smit; J V Leonard; P T Clayton; V Fidler; R Berger; H S Heymans
Journal:  Hepatology       Date:  1994-11       Impact factor: 17.425

Review 3.  Tyrosinemia: a review.

Authors:  P A Russo; G A Mitchell; R M Tanguay
Journal:  Pediatr Dev Pathol       Date:  2001 May-Jun

4.  Neurologic crises in hereditary tyrosinemia.

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Journal:  N Engl J Med       Date:  1990-02-15       Impact factor: 91.245

5.  Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer?

Authors:  C J L Koelink; P van Hasselt; A van der Ploeg; M M van den Heuvel-Eibrink; F A Wijburg; C M A Bijleveld; F J van Spronsen
Journal:  Mol Genet Metab       Date:  2006-09-27       Impact factor: 4.797

6.  Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

Authors:  S Lindstedt; E Holme; E A Lock; O Hjalmarson; B Strandvik
Journal:  Lancet       Date:  1992-10-03       Impact factor: 79.321

7.  Human Gene Mutation Database (HGMD): 2003 update.

Authors:  Peter D Stenson; Edward V Ball; Matthew Mort; Andrew D Phillips; Jacqueline A Shiel; Nick S T Thomas; Shaun Abeysinghe; Michael Krawczak; David N Cooper
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878

8.  On the enzymic defects in hereditary tyrosinemia.

Authors:  B Lindblad; S Lindstedt; G Steen
Journal:  Proc Natl Acad Sci U S A       Date:  1977-10       Impact factor: 11.205

9.  Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia.

Authors:  M K Hostetter; H L Levy; H S Winter; G J Knight; J E Haddow
Journal:  N Engl J Med       Date:  1983-05-26       Impact factor: 91.245
  9 in total
  8 in total

1.  Single dose NTBC-treatment of hereditary tyrosinemia type I.

Authors:  A Schlune; E Thimm; D Herebian; U Spiekerkoetter
Journal:  J Inherit Metab Dis       Date:  2012-02-04       Impact factor: 4.982

2.  A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

Authors:  Habibe Koç Uçar; Gökhan Tümgör; Deniz Kör; Fatih Kardaş; Neslihan Önenli Mungan
Journal:  Balkan Med J       Date:  2016-05-01       Impact factor: 2.021

3.  Unusual first presentation of a metabolic disorder.

Authors:  Claire Emma Strauss; Gayle Hann
Journal:  BMJ Case Rep       Date:  2019-03-22

4.  Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.

Authors:  Neslihan Önenli Mungan; Dinçer Yıldızdaş; Deniz Kör; Özden Özgür Horoz; Faruk İncecik; Murat Öktem; Johannes Sander
Journal:  Metab Brain Dis       Date:  2016-05-17       Impact factor: 3.584

5.  Severe neurological crisis in adult patients with Tyrosinemia type 1.

Authors:  Charlotte Dawson; Radha Ramachandran; Samreen Safdar; Elaine Murphy; Orlando Swayne; Jonathan Katz; Philip N Newsome; Tarekegn Geberhiwot
Journal:  Ann Clin Transl Neurol       Date:  2020-08-21       Impact factor: 4.511

Review 6.  Recommendations for the management of tyrosinaemia type 1.

Authors:  Corinne de Laet; Carlo Dionisi-Vici; James V Leonard; Patrick McKiernan; Grant Mitchell; Lidia Monti; Hélène Ogier de Baulny; Guillem Pintos-Morell; Ute Spiekerkötter
Journal:  Orphanet J Rare Dis       Date:  2013-01-11       Impact factor: 4.123

7.  Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Authors:  Sebene Mayorandan; Uta Meyer; Gülden Gokcay; Nuria Garcia Segarra; Hélène Ogier de Baulny; Francjan van Spronsen; Jiri Zeman; Corinne de Laet; Ute Spiekerkoetter; Eva Thimm; Arianna Maiorana; Carlo Dionisi-Vici; Dorothea Moeslinger; Michaela Brunner-Krainz; Amelie Sophia Lotz-Havla; José Angel Cocho de Juan; Maria Luz Couce Pico; René Santer; Sabine Scholl-Bürgi; Hanna Mandel; Yngve Thomas Bliksrud; Peter Freisinger; Luis Jose Aldamiz-Echevarria; Michel Hochuli; Matthias Gautschi; Jessica Endig; Jens Jordan; Patrick McKiernan; Stefanie Ernst; Susanne Morlot; Arndt Vogel; Johannes Sander; Anibh Martin Das
Journal:  Orphanet J Rare Dis       Date:  2014-08-01       Impact factor: 4.123

8.  Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.

Authors:  Naser Honar; Nader Shakibazad; Zahra Serati Shirazi; Seyed Mohsen Dehghani; Soroor Inaloo
Journal:  Iran J Child Neurol       Date:  2017
  8 in total

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