Prospective treatment of urea cycle disorders
The Journal of Pediatrics, 1991 We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in the neonatal period, and discuss the long-term developmental outcome of survivors. The families of 32 infants, among 43 identified prenatally as being at risk for a urea cycle disorder, chose to have their infants treated ...
N E, Maestri +3 more
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Is there any relationship between mutation in CPS1 Gene and pregnancy loss?
International Journal of Reproductive BioMedicine, 2019 Background Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, which determines the overall rate of the other reactions in the pathway that converts ammonia to carbamoyl phosphate in the first step of ...
Mehrdad Talebi +3 more
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Diagnosis of Urea Cycle Disorders [PDF]
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977 T, Palmer, V G, Oberholzer
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Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl
, 2005 A 4-year-old girl presented at our clinic with autistic-like symptoms, aggressivity and occasional hyperactivity. She had no history of neurologic or physical symptoms.
Tuzun, U, Gorker, I
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Comparison of Microflow and Analytical Flow Liquid Chromatography Coupled to Mass Spectrometry Global Metabolomics Methods Using a Urea Cycle Disorder Mouse Model. [PDF]
J Proteome Res, 2022 Geller S +5 more
europepmc +1 more source
New developments in the treatment of hyperammonemia: emerging use of carglumic acid
International Journal of General Medicine, 2011 Marta Daniotti1, Giancarlo la Marca2, Patrizio Fiorini1, Luca Filippi11Neonatal Intensive Care Unit, Department of Perinatal Medicine, “A. Meyer” University Children’s Hospital, Florence, Italy; 2Mass Spectrometry, Clinical ...
Marta Daniotti +3 more
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Recurrent Altered Mental State Associated with Nonhepatic Hyperammonemia Presented in an Elderly Female Patient: Probable Late-Onset Urea Cycle Disorder. [PDF]
J Epilepsy Res, 2021 Lee JJ +6 more
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Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism
, 2002 Urea-cycle disorders (UCDs) are a group of inborn errors of hepatocyte metabolism that are caused by the loss of enzymes involved in the process of transferring nitrogen from ammonia to urea, via the urea cycle (UC).
Lee, Brendan, Mian, Asad
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Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics. [PDF]
Cureus, 2020 Rauf S +4 more
europepmc +1 more source
, 2016 Background: Urea cycle disorders are amongst the most common of the inborn errors of metabolism. These disorders affect up to 1/25,000 live births in the United States and the number of children affected by partial defects may be much higher . Urea cycle
Robinson, Chelsea
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