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

2015 ◽  
Vol 38 (6) ◽  
pp. 1059-1074 ◽  
Author(s):  
Stefan Kölker ◽  
Vassili Valayannopoulos ◽  
Alberto B. Burlina ◽  
Jolanta Sykut-Cegielska ◽  
Frits A. Wijburg ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Clinical Phenotype ◽  
Urea Cycle Disorders ◽  
Organic Acidurias ◽  
Phenotypic Spectrum ◽  
Cycle Disorders

scholarly journals Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

2015 ◽  
Vol 38 (6) ◽  
pp. 1157-1158 ◽  
Author(s):  
Stefan Kölker ◽  
Vassili Valayannopoulos ◽  
Alberto B. Burlina ◽  
Jolanta Sykut-Cegielska ◽  
Frits A. Wijburg ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Clinical Phenotype ◽  
Urea Cycle Disorders ◽  
Organic Acidurias ◽  
Phenotypic Spectrum ◽  
Cycle Disorders

scholarly journals Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

2015 ◽  
Vol 38 (6) ◽  
pp. 1155-1156 ◽  
Author(s):  
Stefan Kölker ◽  
Angeles Garcia Cazorla ◽  
Vassili Valayannopoulos ◽  
Allan M. Lund ◽  
Alberto B. Burlina ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Initial Presentation ◽  
Urea Cycle Disorders ◽  
Organic Acidurias ◽  
Phenotypic Spectrum ◽  
Cycle Disorders

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

2015 ◽  
Vol 38 (6) ◽  
pp. 1041-1057 ◽  
Author(s):  
Stefan Kölker ◽  
Angeles Garcia Cazorla ◽  
Vassili Valayannopoulos ◽  
Allan M. Lund ◽  
Alberto B. Burlina ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Initial Presentation ◽  
Urea Cycle Disorders ◽  
Organic Acidurias ◽  
Phenotypic Spectrum ◽  
Cycle Disorders

scholarly journals Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

2015 ◽  
pp. 29-38 ◽  
Author(s):  
Stefan Kölker ◽  
◽  
Dries Dobbelaere ◽  
Johannes Häberle ◽  
Peter Burgard ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Organic Acidurias ◽  
Cycle Disorders

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias

2019 ◽  
Vol 231 (02) ◽  
pp. 74-79 ◽  
Author(s):  
Dorotea Ninković ◽  
Željka Mustapić ◽  
Dorotea Bartoniček ◽  
Vesna Benjak ◽  
Mario Ćuk ◽  
...  
Keyword(s):  
Therapeutic Hypothermia ◽  
Urea Cycle ◽  
Organic Aciduria ◽  
Whole Body ◽  
Urea Cycle Disorders ◽  
Organic Acidurias ◽  
Neurological Outcomes ◽  
Hyperammonemic Encephalopathy ◽  
Systemic Hypothermia ◽  
Cycle Disorders

Abstract Background Hyperammonemic encephalopathy in newborns with urea cycle disorders and certain organic acidurias can cause severe brain injury, coma and death. Standard therapy includes protein restriction, nitrogen-scavenging drugs, prevention of catabolism and hemodialysis. Neuroprotective hypothermia as part of the treatment has been reported only 3 times. It has been suggested that mild systemic hypothermia can contribute to better neurological outcomes in hyperammonemic encephalopathy. However, the limited experience precludes accurate conclusions on safety and efficacy. Methods Whole body therapeutic hypothermia was included in the standard treatment of hyperammonemic encephalopathy in 4 neonates with urea cycle disorder or organic aciduria. Results Two patients survived the initial crisis. One patient has a developmental quotient of 0.8, while the other shows severe developmental delay. The cooling protocol had to be discontinued in 3 patients due to the otherwise untreatable complications (hypotension and hemorrhage). Conclusion The efficacy and safety of therapeutic hypothermia in the treatment of neonatal hyperammonemic encephalopathy depend on various factors, requiring further evaluation.

Mutation analysis of urea cycle disorders

2016 ◽  
Vol 04 (01) ◽  
pp. 033-043
Author(s):  
Johannes Häberle ◽  
Véronique Rüfenacht
Keyword(s):  
Mutation Analysis ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders
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