scholarly journals Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

2019 ◽  
Vol 42 (1) ◽  
pp. 93-106 ◽  
Author(s):  
Roland Posset ◽  
Sven F. Garbade ◽  
Nikolas Boy ◽  
Alberto B. Burlina ◽  
Carlo Dionisi‐Vici ◽  
...  
Keyword(s):  
Data Analysis ◽  
Clinical Research ◽  
Rare Diseases ◽  
Urea Cycle ◽  
Comparative Data ◽  
Urea Cycle Disorders ◽  
Successful Strategy ◽  
Cycle Disorders

scholarly journals Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

2010 ◽  
Vol 100 ◽  
pp. S97-S105 ◽  
Author(s):  
Jennifer Seminara ◽  
Mendel Tuchman ◽  
Lauren Krivitzky ◽  
Jeffrey Krischer ◽  
Hye-Seung Lee ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

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

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

2020 ◽  
Vol 33 (6) ◽  
pp. 721-728
Author(s):  
Özlem Saritaş Nakip ◽  
Yılmaz Yıldız ◽  
Ayşegül Tokatlı
Keyword(s):  
Mortality Rate ◽  
Urea Cycle ◽  
Laboratory Data ◽  
Patient Characteristics ◽  
Hereditary Diseases ◽  
Urea Cycle Disorders ◽  
Carbamoyl Phosphate ◽  
Term Survival ◽  
Genetic Features ◽  
Cycle Disorders

AbstractObjectivesUrea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey.MethodsThe primary outcome was to determine patient characteristics. Investigating the relationships between the patient outcomes and ammonia levels were the secondary outcomes. Eighty five patients from 79 families, diagnosed with UCD at a single metabolic referral center between 1979 and 2017, were included. Clinical and laboratory data were retrieved retrospectively from hospital records.ResultsClassical citrullinemia was the most common type of UCD; citrin deficiency and carbamoyl phosphate synthase 1 deficiency (CPS1D) were the rarest. One thirty one hyperammonemic episodes were recorded. The peak ammonia levels were found to be significantly associated with polycythemia and hypocalcemia at presentation. The median peak ammonia values of the patients who died were higher than those of the survivors. The highest mortality rate was in the classical citrullinemia group. The mortality rate of the first hyperammonemic crisis was 28.6%, while it was 6.7% in subsequent episodes with an odds ratio of 4.28 (95% CI: 1.67–11.0) (p=0.001). Forty-four patients underwent genetic analysis and genetic variants were detected in 42 patients (95%). Three of the detected variants have not been previously reported.ConclusionsThis is the largest UCD series in Turkey and may serve as a guide to clinical, biochemical and genetic features of UCDs in our country. Prevention of hyperammonemia may be the most influential measure to improve long term survival.

Biomarkers for liver disease in urea cycle disorders

2021 ◽  
Author(s):  
Sandesh C.S. Nagamani ◽  
Saima Ali ◽  
Rima Izem ◽  
Deborah Schady ◽  
Prakash Masand ◽  
...  
Keyword(s):  
Liver Disease ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

scholarly journals Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

2019 ◽  
Vol 42 (6) ◽  
pp. 1176-1191 ◽  
Author(s):  
Susan E. Waisbren ◽  
Arianna K. Stefanatos ◽  
Teresa M. Y. Kok ◽  
Burcu Ozturk‐Hismi
Keyword(s):  
Systematic Review ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Review Of The Literature ◽  
Cycle Disorders

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

2005 ◽  
Vol 21 (4) ◽  
pp. S9-S17 ◽  
Author(s):  
Wendy Smith ◽  
Priya S. Kishnani ◽  
Brendan Lee ◽  
Rani H. Singh ◽  
William J. Rhead ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Newborn Period ◽  
Cycle Disorders
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