Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Current Standard of Care (SOC) for ARG1 deficiency in patients or those having detrimental mutations of ARG1 gene is diet control.
|
29923457 |
2018 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Newborn screening for hyperargininemia due to arginase 1 deficiency.
|
28659245 |
2017 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
We tested whether one of these enzymes, a pegylated human recombinant arginase 1 (AEB1102), reduces plasma arginine in murine models of arginase deficiency.
|
26358771 |
2015 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.
|
26123990 |
2015 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
|
1463019 |
1992 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
|
2365823 |
1990 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Recent studies have highlighted the therapeutic importance of bimetallic human arginase-I against hyperargininemia and L-arginine auxotrophic cancers.
|
30282613 |
2018 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.
|
19936428 |
2009 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure.
|
29961243 |
2018 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
|
22959135 |
2012 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
In this article, we describe the results of molecular studies in a young hyperargininemia patient carrying a novel splicing mutation in ARG1.
|
26169240 |
2015 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Five novel mutations in ARG1 gene in Chinese patients of argininemia.
|
23859858 |
2013 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Hyperargininemia due to mutations in ARG1 gene is an autosomal recessive inborn error of metabolism caused by a defect in the final step of the urea cycle.
|
24997092 |
2014 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old.
|
29443755 |
2018 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
We identified a full-term Hispanic male infant with argininaemia by newborn screening with a serum arginine of 327 µmol/L (reference values 0-140); ARG1 was undetectable on enzyme assay.
|
19562505 |
2009 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.
|
15565656 |
2004 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
This review briefly highlights the current understanding of the etiology and pathophysiology of ARG1 deficiency derived from clinical case reports and therapeutic strategies stretching over several decades and reports on several exciting new developments regarding the pathophysiology of the disorder using ARG1 global and inducible knockout mouse models.
|
26467175 |
2015 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.
|
28089752 |
2017 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
These results suggest that delivery of <i>ARG1</i> mRNA by liver-targeted nanoparticles may be a viable gene-based therapeutic for the treatment of arginase deficiency.
|
31501335 |
2019 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from Madeira Island) we performed a DNA sequence analysis of all the exons and exon/intron boundaries of the liver-type arginase gene (ARG1).
|
10502833 |
1999 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1+1899GTTTTATCAT;g.invIVS1+1933_+1953;g.delIVS1+1954_IVS2+914;c.del116_188;p.Pro20SerfsX4) commonly shared by 5 patients with hyperargininemia, each originating from different family.
|
24103480 |
2014 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy.
|
31604595 |
2020 |
Hyperargininemia
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
In humans, arginase I (AI)-deficiency results in hyperargininemia, a metabolic disorder with symptoms of progressive neurological and intellectual impairment, spasticity, persistent growth retardation, and episodic hyperammonemia.
|
17997338 |
2008 |
Hyperargininemia
|
1.000 |
GeneticVariation
|
phenotype |
CLINVAR |
Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects.
|
18957279 |
2009 |
Hyperargininemia
|
1.000 |
CausalMutation
|
phenotype |
CLINVAR |
Mouse model for human arginase deficiency.
|
12052859 |
2002 |