Page last updated: 2024-10-16

betaine and Urea Cycle Disorders, Inborn

betaine has been researched along with Urea Cycle Disorders, Inborn in 1 studies

glycine betaine : The amino acid betaine derived from glycine.

Urea Cycle Disorders, Inborn: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Minkler, PE1
Stoll, MS1
Ingalls, ST1
Kerner, J1
Hoppel, CL1

Other Studies

1 other study available for betaine and Urea Cycle Disorders, Inborn

ArticleYear
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:4

    Topics: Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Betaine;

2015