|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Studies have demonstrated that the CPS1 polymorphism rs1047891-A allele carriers were susceptible to VPA-induced HA.
|
31151073 |
2019 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Within 24 hours of birth, all Cps1 <sup>-/-</sup> mice developed hyperammonemia and expired.
|
30835861 |
2019 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In summary, we found that upregulation of hepatic GS reduced hyperammonemia in wild-type and Cps1-deficient mice, thus confirming a key role of GS in ammonia detoxification.
|
30724386 |
2019 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Carbamoyl phosphate synthetase I (CPS1) deficiency (CPS1D), is a rare autosomal recessive disorder, characterized by life-threatening hyperammonemia.
|
31507628 |
2019 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Notably, in patients with ornithine transcarbamylase syndrome (OTC-D), carbamylphosphate synthetase 1 syndrome (CPS1-D) and hyperammonemia-hyperornithinemia-homocitrullinemia (HHH) syndrome selective L-citrulline supplementation resulted in higher plasma L-arginine levels than selective L-arginine supplementation.
|
30734935 |
2019 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In addition, the risk factors for hyperammonaemia identified by logistic regression analysis were as follows: a younger age (odds ratio [OR] = 0.85; 95% confidence interval [CI] = 0.76-0.96; p = 0.007), occurrence of liver injury (OR = 4.60; 95% CI = 1.27-16.74; p = 0.021), higher CDR of 4-ene VPA (OR = 1.08; 95% CI = 1.03-1.14; p = 0.001), and carrying mutant alleles of CYP2C9*3 (OR = 3.42; 95% CI = 1.15-10.19; p = 0.028), CYP2A6*4 (OR = 3.23; 95% CI = 1.40-7.48; p = 0.006) and CPS1 4217C>A (OR = 3.25; 95% CI = 1.52-6.94; p = 0.002).
|
29791065 |
2018 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Bi-allelic mutations of the CPS1 gene result in a urea cycle disorder presenting with hyperammonemia, often with reduced citrulline, and without orotic aciduria.
|
29801986 |
2018 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia.
|
28281899 |
2017 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Carbamoyl phosphate synthetase 1 (CPS1) deficiency is a rare autosomal recessive disorder of ureagenesis presenting as life-threatening hyperammonemia.
|
26440671 |
2016 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is an inborn error of the urea cycle having autosomal (2q34) recessive inheritance that can cause hyperammonemia and neonatal death or mental retardation.
|
26059772 |
2015 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
These structures allow rationalizing the effects of mutations found in patients with CPS1 deficiency (presenting hyperammonemia, mental retardation and even death), as exemplified here for some mutations.
|
26592762 |
2015 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We therefore hypothesized that the acute onset of hyperammonemia was due to an acquired, chemotherapy-induced (posttranscriptional) CPS1 deficiency.
|
25639153 |
2015 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
With regard to the CPS1 4217C>A polymorphism, we did not observe a significant association with the development of hyperammonemia.
|
24888247 |
2014 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment.
|
25410056 |
2014 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Deficiency of carbamoyl phosphate synthetase I (CPSI) results in hyperammonemia ranging from neonatally lethal to environmentally induced adult-onset disease.
|
21120950 |
2011 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Carbamoyl-phosphate synthetase I (CPS1) deficiency (CPS1D), a recessively inherited urea cycle error due to CPS1 gene mutations, causes life-threatening hyperammonemia.
|
20578160 |
2010 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
CPS1 deficiency (CPS1D) is an autosomal recessive inborn error which leads to hyperammonemia due to mutations in the CPS1 gene, or is caused secondarily by lack of its allosteric activator NAG.
|
20800523 |
2010 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Deficiency of the urea cycle enzyme carbamylphosphate synthetase 1 (CPS1) causes hyperammonemia with a vast range of clinical severity from neonatal onset with early lethality to onset after age 40 with rare episodes of hyperammonemic confusion.
|
19793055 |
2009 |
|
Hyperammonemia
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Carbamoyl phosphate synthetase-I (CPS1) is a key enzyme in the urea cycle and patients with defects in the function or expression of CPS1 suffer from hyperammonemia.
|
19272383 |
2009 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle disorder characterized by episodes of life-threatening hyperammonemia.
|
17310273 |
2007 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
|
17310273 |
2007 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Carbamoyl phosphate synthetase I (CPSI) deficiency, a recessively inherited error of the urea cycle, causes life-threatening hyperammonaemia.
|
15876373 |
2005 |
|
Hyperammonemia
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Deficiency of the hepatic enzyme carbamoyl-phosphate synthase I (CPSI), results in lethal or near-lethal hyperammonaemia.
|
9686343 |
1998 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.
|
8486760 |
1993 |
|
Hyperammonemia
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|