Arginase deficiency prevalence study

Arginase Deficiency - GeneReviews® - NCBI Bookshelf

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10/21/2004 · Prevalence. Arginase deficiency is thought to be one of the least common of the urea cycle defects. Its incidence has been estimated at between 1:350,000 and 1:1,000,000; the true incidence in non-related populations is unknown. Arginase deficiency may be more common in parts of Japan and among French Canadians.

Arginase Deficiency - GeneReviews® - NCBI Bookshelf

Arginase Deficiency: Background, Pathophysiology, Epidemiology

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1/7/2019 · Arginase deficiency is thought to be the least common of the urea cycle disorders. This entity also manifests itself in a fashion somewhat different from other disorders in the group (see Physical).

Arginase Deficiency: Background, Pathophysiology, Epidemiology

OMIM Entry - # 207800 - ARGININEMIA

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The prevalence of argininemia is estimated to be 1 in 1,100,000 (Testai and Gorelick, 2010). ... (UCDs) enrolled in the Urea Cycle Disorders Consortium's longitudinal study protocol. Arginase deficiency occurred in 22 patients (3.5%).

OMIM Entry - # 207800 - ARGININEMIA

A longitudinal study of urea cycle disorders

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The urea cycle disorders consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCD) with initial enrollment beginning in 2006. The consortium consists of 14 …

A longitudinal study of urea cycle disorders

Clinical Consequences of Urea Cycle Enzyme Deficiencies ...

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10/1/2004 · Moreover, our recent observations suggest that there may be an increased prevalence of essential hypertension. In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia.

Clinical Consequences of Urea Cycle Enzyme Deficiencies ...

Test | Invitae Arginase Deficiency Test

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The Invitae Arginase Deficiency Test analyzes the ARG1 gene, which is associated with arginase deficiency. This test is useful for the diagnosis of patients in whom arginase deficiency is suspected due to clinical symptoms, biochemical findings, or abnormal newborn screening results.

Test | Invitae Arginase Deficiency Test

JCI - Arginase: marker, effector, or candidate gene for ...

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Arginase I participates in the urea cycle, and is expressed at high levels in the liver. Arginase I deficiency results in argininemia, a disorder characterized by mental impairment, growth retardation, spasticity, and sometimes fatal episodes of hyperammonemia.

JCI - Arginase: marker, effector, or candidate gene for ...

Hyperargininemia with Arginase Deficiency | Request PDF

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Hyperargininemia with Arginase Deficiency. ... Molecular genetic study of human arginase deficiency. Article. Jul 1992; ... but collectively their prevalence of about 1.0% of live births (Carter ...

Hyperargininemia with Arginase Deficiency | Request PDF

(PDF) Anesthetic Management Of A Pediatric Patient With ...

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PDF | Arginase deficiency is an autosomal recessive disorder of the urea cycle in which a defect in conversion of arginine to urea and ornithine leads to hyper-ammonemia. Patients with urea cycle ...

(PDF) Anesthetic Management Of A Pediatric Patient With ...

Arginase-2 Mediates Diabetic Renal Injury | Diabetes

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11/1/2011 · This study shows that pharmacological blockade or genetic deficiency of arginase-2 mediates renal tissue protection as proven by a reduction in albuminuria, BUN, histopathological changes, and kidney macrophage recruitment during diabetes.

Arginase-2 Mediates Diabetic Renal Injury | Diabetes

Argininemia - an overview | ScienceDirect Topics

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Carbamyl phosphate synthetase deficiency, ornithine transcarbamylase deficiency, citrullinemia, argininosuccinic acidemia, and argininemia (arginase deficiency) are the disorders caused by defects in the enzyme systems responsible for urea synthesis (Fig. 1-2).A similar syndrome results from deficiency of the cofactor producer N-acetylglutamate synthetase.

Argininemia - an overview | ScienceDirect Topics

Excuse Me, But are You Missing the Arginase Enzyme?

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11/30/2016 · Thanks to the growing prevalence of newborn screening, ... Because the study has already had good results, the FDA has put AEB110 on the fast track to approval, which is good news for people who suffer from arginase deficiency. If you would like more …

Excuse Me, But are You Missing the Arginase Enzyme?

Recurrent unexplained hyperammonemia in an adolescent with ...

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Arginase deficiency (also known as hyperargininemia, Mendelian Inheritance in Man number 207800), is caused by a deficiency of liver enzyme arginase I (E.C. 3.5.3.1). It is the least common urea cycle disorder with an estimated prevalence of 1 in 1,100,000 [2] .

Recurrent unexplained hyperammonemia in an adolescent with ...

Arginase: A Multifaceted Enzyme Important in Health and ...

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The arginase enzyme developed in early life forms and was maintained during evolution. As the last step in the urea cycle, arginase cleaves l-arginine to form urea and l-ornithine.The urea cycle provides protection against excess ammonia, while l-ornithine is needed for cell proliferation, collagen formation, and other physiological functions.In mammals, increases in arginase activity have ...

Arginase: A Multifaceted Enzyme Important in Health and ...

Arginase - Berea College

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11/14/2011 · Arginase is critical because the deficiency can lead to devastating problems and even death (14). Progress in the study of arginase has evolved greatly with the assistance of new technology since its discovery in 1904 (1).

Arginase - Berea College

Functions and Mechanisms of Arginase in Age-Associated ...

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Functions and Mechanisms of Arginase in Age-Associated Cardiovascular Diseases Xiu-Fen Ming & Zhihong Yang Published online: 5 October 2013 ... prevalence of cardiovascular and metabolic diseases including ... Arg-I deficiency due to gene mutation in humans

Functions and Mechanisms of Arginase in Age-Associated ...

Arginase Deficiency - A Bibliography and Dictionary for ...

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ARGINASE DEFICIENCY A 3-in-1 Medical Reference A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers TO INTERNET REFERENCES ARGINASE DEFICIENCY A BIBLIOGRAPHY AND DICTIONARY FOR PHYSICIANS, PATIENTS, AND GENOME RESEARCHERS J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS ii

Arginase Deficiency - A Bibliography and Dictionary for ...

Arginase as a potential target in the treatment of ...

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2/14/2013 · Arginase is a manganese metalloenzyme that hydrolyses l-arginine to urea and l-ornithine. Arginase exists in two distinct isoforms, arginase I and II, that share ∼60% sequence homology. 4 Although both isoforms are found throughout the body, arginase I is a cytosolic enzyme mainly localized in the liver. Hepatic arginase I contributes most of ...

Arginase as a potential target in the treatment of ...

Incidence, disease onset and short-term outcome in urea ...

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6/15/2017 · Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifestation and short-term outcome. Cross-border surveillance of newly diagnosed …

Incidence, disease onset and short-term outcome in urea ...

Manganese | Linus Pauling Institute | Oregon State University

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Manganese is a mineral element that is both nutritionally essential and potentially toxic. The derivation of its name from the Greek word for magic remains appropriate, because scientists are still working to understand the diverse effects of manganese deficiency and manganese toxicity in …

Manganese | Linus Pauling Institute | Oregon State University

Papers with the keyword arginase 1 deficiency (Page 2 ...

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Arginase I (ARG1) deficiency is an autosomal recessive urea cycle disorder, caused by deficiency of the enzyme Arginase I, resulting in accumulation of arginine in blood. Current Standard of Care (SOC) for ARG1 deficiency in patients or those having detrimental mutations of ARG1 gene is diet control.

Papers with the keyword arginase 1 deficiency (Page 2 ...

Is arginase a potential drug target in tobacco-induced ...

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3/28/2015 · Tobacco-induced pulmonary vascular disease is partly driven by endothelial dysfunction. The bioavailability of the potent vasodilator nitric oxide (NO) depends on competition between NO synthase-3 (NOS3) and arginases for their common substrate (L-arginine). We tested the hypothesis whereby tobacco smoking impairs pulmonary endothelial function via upregulation of the arginase pathway.

Is arginase a potential drug target in tobacco-induced ...

(PDF) Expression of arginase II in prostate cancer | Wayne ...

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Previous reports have shown elevated arginase activity in prostate cancer patients. This study was designed to compare expression levels of arginase II (AII) in various human prostate cancer cell lines and tissues. Expression levels of AII and other

(PDF) Expression of arginase II in prostate cancer | Wayne ...

Study of the effects of oral zinc supplementation on ...

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1/3/2014 · Low concentrations of nitric oxide (NO) are necessary for the biology and physiology of spermatozoa, but high levels of NO are toxic and have negative effects on sperm functions. Although several studies have considered the relationship between infertility and semen NO concentrations, no study on the effects of asthenospermia treatments such as oral zinc supplementation on …

Study of the effects of oral zinc supplementation on ...

N-Acetylglutamate Synthetase Deficiency - NORD (National ...

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N-acetylglutamate synthetase (NAGS) deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme N-acetylglutamate synthetase (NAGS). NAGS is one of six enzymes that play a role in the break down and removal of nitrogen from the body, a process known as the urea ...

N-Acetylglutamate Synthetase Deficiency - NORD (National ...

Decreased Arginine Bioavailability and Increased Serum ...

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7/15/2004 · Recent studies suggest that a nitric oxide (NO) deficiency and elevated arginase activity may play a role in the pathogenesis of asthma. Although much attention has been directed toward measurements of exhaled NO in asthma, no studies to date have evaluated levels of plasma arginase or arginine, the substrate for NO production, in patients with asthma.

Decreased Arginine Bioavailability and Increased Serum ...

Argininosuccinate lyase deficiency | Genetics in Medicine

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1/5/2012 · Genetics in Medicine ... ASL deficiency (ASLD) has an estimated prevalence of 1 in 70,000 live births, 3 making it the second most common UCD. 4 ... In a cross-sectional study of individuals ...

Argininosuccinate lyase deficiency | Genetics in Medicine

Urea cycle disorders | Genetic and Rare Diseases ...

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9/10/2013 · The Urea Cycle Disorders Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the US, working together to improve the lives of people with Urea Cycle Disorders. The Urea Cycle Disorders Consortium maintains a registry for patients who wish to be contacted about clinical research opportunities.

Urea cycle disorders | Genetic and Rare Diseases ...

Editorial Original Article Indian Journal of Medical ...

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arginase activity in the high ammonia group compared to the normal ammonia group. A significant negative correlation between arginase and ammonia is observed in both the groups. The result of this study suggests that arginase deficiency could be the cause for hyperammonemia in these cases.

Editorial Original Article Indian Journal of Medical ...

Aeglea BioTherapeutics (AGLE) Q4 2018 Earnings Conference ...

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So obviously, what we're driving forward with pegzilarginase in Arginase 1 Deficiency, we're obviously starting a Phase III study, the approval in the rare disease is quick relative to oncology.

Aeglea BioTherapeutics (AGLE) Q4 2018 Earnings Conference ...

Welcome to the National Urea Cycle Disorders Foundation

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The National Urea Cycle Disorders Foundation is lifeline of information and support for all those affected by urea cycle disorders. NUCDF is nonprofit organization committed to saving the lives of children and adults with urea cycle disorder. NUCDF is the leader in the identification, treatment and cure of urea cycle disorders; raising awareness, supporting urea cycle disorder research and ...

Welcome to the National Urea Cycle Disorders Foundation

Pyruvate kinase deficiency - Genetics Home Reference - NIH

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Pyruvate kinase deficiency is the most common inherited cause of nonspherocytic hemolytic anemia. More than 500 affected families have been identified, and studies suggest that the disorder may be underdiagnosed because mild cases may not be identified. Pyruvate kinase deficiency is found in all ethnic groups. Its prevalence has been estimated ...

Pyruvate kinase deficiency - Genetics Home Reference - NIH

Urea Cycle Disorders (UCD) - NORD (National Organization ...

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Welcome to the NORD Physician Guide to the Urea Cycle Disorders (UCD). Information in this guide is provided by clinicians with expertise in these disorders who also serve as medical advisors to NORD and the National Urea Cycle Disorders Foundation. This information is provided in the hope that it will help patients obtain timely diagnosis and treatment.

Urea Cycle Disorders (UCD) - NORD (National Organization ...

Identification of an Arginase II Inhibitor via RapidFire ...

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Peripheral arterial disease (PAD) is an occlusive disease that can lead to atherosclerosis. The involvement of arginase II (Arg II) in PAD progression has been proposed. However, no promising drugs targeting Arg II have been developed to date for the treatment of PAD. In this study, we established a method for detecting the activity of Arg II via high-throughput label-free RapidFire mass ...

Identification of an Arginase II Inhibitor via RapidFire ...

AD Award Number: DAMD17-03-1-0201 Arginase: A Novel ...

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United States, yet despite its high prevalence, relatively little is known about the biochemical and ... related genes and enzymes of arginine metabolism and study the effect on prostate cancer cell ... arginase deficiency (hyperargininemia).

AD Award Number: DAMD17-03-1-0201 Arginase: A Novel ...

Longitudinal Study of Urea Cycle Disorders - Full Text ...

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10/12/2005 · Longitudinal Study of Urea Cycle Disorders The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government.

Longitudinal Study of Urea Cycle Disorders - Full Text ...

Amino Acid Metabolism | Cancer & Rare Genetic Diseases

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Arginase 1 Deficiency is a rare genetic disorder caused by a mutation in the Arginase 1 gene that leads to the inability to degrade arginine. This results in excessively high levels of arginine in the blood, referred to as hyperargininemia. Arginase 1 Deficiency is a urea cycle disorder with a reported incidence of 1:350,000 to 1:1,000,000 live ...

Amino Acid Metabolism | Cancer & Rare Genetic Diseases

2239 - apps.dtic.mil

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United States, yet despite its high prevalence, relatively little is known about the biochemical and ... (arginase deficiency; hyperargininemia), our ... We have also begun to study effects on polyamine synthesis, which according to our hypothesis is the focal point …

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