Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years

2015 ◽  
Vol 39 (2) ◽  
pp. 219-229 ◽  
Author(s):  
Peter Burgard ◽  
Stefan Kölker ◽  
Gisela Haege ◽  
Martin Lindner ◽  
Georg F. Hoffmann
Keyword(s):  
Neonatal Mortality ◽  
Early Onset ◽  
Observational Studies ◽  
Urea Cycle ◽  
Meta Analysis ◽  
First Year ◽  
Urea Cycle Disorders ◽  
Cycle Disorders ◽  
First Year Of Life

scholarly journals Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders

2020 ◽  
Vol 130 (2) ◽  
pp. 110-117
Author(s):  
Clément Pontoizeau ◽  
Célina Roda ◽  
Jean-Baptiste Arnoux ◽  
Patricia Vignolo-Diard ◽  
Anais Brassier ◽  
...  
Keyword(s):  
Early Onset ◽  
Urea Cycle ◽  
Developmental Outcome ◽  
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

scholarly journals Risk factors for early–onset seizures after stroke: A systematicreview and meta‐analysis of 18 observational studies

2021 ◽  
Author(s):  
Sitian Ma ◽  
Xiaoxuan Fan ◽  
Xiaoping Zhao ◽  
Kai Wang ◽  
Huan Wang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Early Onset ◽  
Observational Studies ◽  
Meta Analysis

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

scholarly journals Young children with Noonan syndrome: evaluation of feeding problems

2020 ◽  
Vol 179 (11) ◽  
pp. 1683-1688
Author(s):  
Jos M. T. Draaisma ◽  
Joris Drossaers ◽  
Lenie van den Engel-Hoek ◽  
Erika Leenders ◽  
Joyce Geelen
Keyword(s):  
Young Children ◽  
Noonan Syndrome ◽  
Early Onset ◽  
Late Onset ◽  
Tube Feeding ◽  
Genetic Mutation ◽  
First Year ◽  
Feeding Problems ◽  
Genetic Syndrome ◽  
First Year Of Life

Abstract Noonan syndrome (NS) is a common genetic syndrome with a high variety in phenotype. Even though genetic testing is possible, NS is still a clinical diagnosis. Feeding problems are often present in infancy. We investigated the feeding status of 108 patients with clinically and genetically confirmed NS. Only patients with a documented feeding status before the age of 6 were included. A distinction was made between patients with early onset feeding problems (< 1 year) and children with late onset feeding problems (> 1 year). Seventy-one of 108 patients had feeding problems, of which 40 patients required tube feeding. Children with a genetic mutation other than PTPN11 and SOS1 had significantly more feeding problems in the first year. Fifty-two of all 108 patients experienced early onset feeding problems, of which 33 required tube feeding. A strong decrease in prevalence of feeding problems was found after the first year of life. Fifteen children developed feeding problems later in life, of which 7 required tube feeding. Conclusion: Feeding problems occur frequently in children with NS, especially in children with NS based on genetic mutations other than PTPN11 and SOS1. Feeding problems develop most often in infancy and decrease with age. What is Known:• Young children with Noonan syndrome may have transient feeding problems.• Most of them will need tube feeding. What is New:• This is the first study of feeding problems in patients with clinically and genetically proven Noonan syndrome.• Feeding problems most often develop in infancy and resolve between the age of 1 and 2.

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

scholarly journals Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

2011 ◽  
Vol 103 (4) ◽  
pp. 323-329 ◽  
Author(s):  
Uta Lichter-Konecki ◽  
G.A. Diaz ◽  
J.L. Merritt ◽  
A. Feigenbaum ◽  
C. Jomphe ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Phase 2 ◽  
Cycle Disorders ◽  
Sodium Phenylbutyrate
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