Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

2017 ◽  
Vol 21 (4) ◽  
pp. 391-399 ◽  
Author(s):  
Carmen Diez-Fernandez ◽  
Johannes Häberle
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Carbamoyl Phosphate Synthetase 1 ◽  
Cps1 Deficiency

scholarly journals SIRT5 Deacetylates Carbamoyl Phosphate Synthetase 1 and Regulates the Urea Cycle

Cell ◽  
2009 ◽  
Vol 137 (3) ◽  
pp. 560-570 ◽  
Author(s):  
Takashi Nakagawa ◽  
David J. Lomb ◽  
Marcia C. Haigis ◽  
Leonard Guarente
Keyword(s):  
Urea Cycle ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Carbamoyl Phosphate Synthetase 1

scholarly journals The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency

2021 ◽  
Vol 8 ◽  
pp. 2329048X2098517
Author(s):  
Meaghan McGowan ◽  
Carlos Ferreira ◽  
Matthew Whitehead ◽  
Sudeepta K. Basu ◽  
Taeun Chang ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Response To Treatment ◽  
Carbamoyl Phosphate Synthetase ◽  
Resonance Imaging ◽  
Carbamoyl Phosphate ◽  
Neonatal Onset ◽  
Neurologic Sequelae ◽  
Carbamoyl Phosphate Synthetase 1 ◽  
Cycle Disorders ◽  
Guide Care

Neonatal-onset urea cycle disorders (UCDs) may result in hyperammonemic (HA) encephalopathy presenting with several neurologic sequelae including seizures, coma, and death. However, no recommendations are given in how and when neurodiagnostic studies should be used to screen or assess for these neurologic complications. We present a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a newborn female in which electroencephalogram monitoring to assess encephalopathy and seizures, and magnetic resonance imaging measurements of brain metabolites were used to guide care during her hyperammonemic crisis. Her neurologic course and response to treatment characterizes the significant neurologic impact of HA encephalopathy. Our group herein proposes a clinical neurodiagnostic pathway for managing acute HA encephalopathy.

scholarly journals Is there any relationship between mutation in CPS1 Gene and pregnancy loss?

2019 ◽  
Author(s):  
Mehrdad Talebi ◽  
Mohammad Yahya Vahidi Mehrjardi ◽  
Kambiz Kalhor ◽  
Mohammadreza Dehghani
Keyword(s):  
Newborn Infant ◽  
Pregnancy Loss ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Hereditary Disease ◽  
The Other ◽  
Carbamoyl Phosphate Synthetase ◽  
Specific Enzyme ◽  
Carbamoyl Phosphate ◽  
Carbamoyl Phosphate Synthetase 1

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 the urea cycle. Carbamoyl phosphate synthetase 1 deficiency (CPS1D), which usually presents as lethal hyperammonemia, is a rare autosomal recessive hereditary disease. Case: We report a case of a two-day-old female neonate with lethal hyperammonemia. The newborn infant was presented with hyperammonemia (34.7

scholarly journals The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle

2015 ◽  
Vol 42 (5) ◽  
pp. 249-260 ◽  
Author(s):  
Carmen Díez-Fernández ◽  
José Gallego ◽  
Johannes Häberle ◽  
Javier Cervera ◽  
Vicente Rubio
Keyword(s):  
Urea Cycle ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Carbamoyl Phosphate Synthetase 1

scholarly journals The antigen for Hep Par 1 antibody is the urea cycle enzyme carbamoyl phosphate synthetase 1

2007 ◽  
Vol 88 (1) ◽  
pp. 78-88 ◽  
Author(s):  
Samantha L Butler ◽  
Huijia Dong ◽  
Diana Cardona ◽  
Minghong Jia ◽  
Ran Zheng ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Carbamoyl Phosphate Synthetase ◽  
Carbamoyl Phosphate ◽  
Cycle Enzyme ◽  
Carbamoyl Phosphate Synthetase 1 ◽  
Urea Cycle Enzyme
Sign in / Sign up

Export Citation Format

Share Document