Page last updated: 2024-10-21

urea and ARG1 Deficiency

urea has been researched along with ARG1 Deficiency in 33 studies

pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.

Research Excerpts

ExcerptRelevanceReference
"The capacity of arginase-deficient erythrocytes of patients with familial hyperargininemia to produce urea and to catabolize arginine can be increased in vitro by introducing human liver arginase into their erythrocytes."7.65Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. ( Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG, 1976)
" In contrast, hyperargininemia found in patients with arginase 1 deficiency is associated with pyramidal tract findings and spasticity, without significant hyperammonemia."4.82Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. ( Brunetti-Pierri, N; Carter, S; Garlick, P; Jahoor, F; Kleppe, S; Lee, B; Marini, J; O'Brien, W; Scaglia, F, 2004)
"Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step of the urea cycle, and results biochemically in hyperargininemia and the presence of guanidino compounds, while it is clinically notable for developmental delays, spastic diplegia, psychomotor function loss, and (uncommonly) death."3.91Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. ( Allegri, G; Burke, KE; Cederbaum, SD; Häberle, J; Lipshutz, GS; Liu, XB; Martini, PGV; Truong, B; Zhu, X, 2019)
" The gene coding for this isozyme is mutated in human hyperargininemia."3.67Human arginase isozymes. ( Cederbaum, SD; Dizikes, GJ; Grody, WW, 1987)
"Urea cycle disorders and other hyperammonemic syndromes should be considered in the differential diagnosis in newborns with a history of severe vomiting, lethargy, and seizures, and in infants with feeding problems, episodic vomiting, and altered consciousness."3.65Congenital hyperammonemic syndromes. ( Shih, VE, 1976)
"The capacity of arginase-deficient erythrocytes of patients with familial hyperargininemia to produce urea and to catabolize arginine can be increased in vitro by introducing human liver arginase into their erythrocytes."3.65Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. ( Adriaenssens, K; Karcher, D; Lowenthal, A; Terheggen, HG, 1976)
"ARG1-deficient patients exhibit hyperargininemia with spastic paraparesis, progressive neurological and intellectual impairment, persistent growth retardation, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders."2.52Arginase-1 deficiency. ( Baron, G; Funk, CD; Schulze, A; Sin, YY, 2015)
"One patient with OTC deficiency has had a liver transplant."1.35Hereditary urea cycle diseases in Finland. ( Keskinen, P; Salo, M; Siitonen, A, 2008)
"By far the most common disorder was OTC deficiency, accounting for 2/3 of all cases."1.30Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. ( Endo, F; Matsuda, I; Uchino, T, 1998)
"The hyperammonemia of Reye's syndrome apparently results from excess waste nitrogen that overwhelms the ability of reduced ornithine transcarbamylase (and occasionally carbamyl phosphate synthetase) to detoxify the ammonia load."1.26Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome. ( DeLong, GR; Snodgrass, PJ, 1976)
"The infant developed severe mental retardation, athetosis, and spasticity."1.25Familial hyperargininaemia. ( Colombo, JP; Lavinha, F; Lowenthal, A; Terheggen, HG, 1975)

Research

Studies (33)

TimeframeStudies, this research(%)All Research%
pre-199017 (51.52)18.7374
1990's5 (15.15)18.2507
2000's6 (18.18)29.6817
2010's5 (15.15)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Truong, B1
Allegri, G1
Liu, XB1
Burke, KE1
Zhu, X1
Cederbaum, SD6
Häberle, J2
Martini, PGV1
Lipshutz, GS1
Asrani, KH1
Cheng, L1
Cheng, CJ1
Subramanian, RR1
Sin, YY1
Baron, G1
Schulze, A1
Funk, CD1
Keskinen, P1
Siitonen, A1
Salo, M1
Mitchell, S1
Ellingson, C1
Coyne, T1
Hall, L1
Neill, M1
Christian, N1
Higham, C1
Dobrowolski, SF1
Tuchman, M1
Summar, M1
Deignan, JL2
De Deyn, PP1
Fuchshuber, A1
Roth, B1
Gsell, W1
Marescau, B1
Zhang, Y1
Landau, YE1
Miller, DT1
Marsden, D1
Berry, GT1
Kellogg, MD1
Koch, HG1
Scaglia, F1
Brunetti-Pierri, N1
Kleppe, S1
Marini, J1
Carter, S1
Garlick, P1
Jahoor, F1
O'Brien, W1
Lee, B1
Mavri-Damelin, D1
Eaton, S1
Damelin, LH1
Rees, M1
Hodgson, HJ1
Selden, C1
Grody, WW3
Batshaw, ML1
Walser, M1
Kanalas, JJ1
Spector, EB1
Terheggen, HG3
Lowenthal, A3
Colombo, JP2
Yoshino, M1
Kubota, K1
Yoshida, I1
Murakami, T1
Yamashita, F1
Chang, RJ1
Panagiotis, NM1
Matz, D1
Matsuda, I2
Matsuura, T1
Hoshide, R1
Uchino, T2
Matsubasa, T1
Tazawa, Y1
Endo, F1
Shambaugh, GE1
Natelson, S1
Sherwin, JE1
Raijman, L1
Shih, VE1
Lavinha, F1
Wolfe, DM1
Gatfield, PD1
Snodgrass, PJ1
DeLong, GR1
Adriaenssens, K1
Karcher, D1
Ohtake, A1
Mori, M1
Chadefaux, B1
Rabier, D1
Kamoun, P1
Saheki, T1
Kobayashi, K1
Inoue, I1
Dizikes, GJ1
Brusilow, SW1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Longitudinal Study of Urea Cycle Disorders[NCT00237315]1,009 participants (Anticipated)Observational2006-02-28Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

9 reviews available for urea and ARG1 Deficiency

ArticleYear
Arginase-1 deficiency.
    Journal of molecular medicine (Berlin, Germany), 2015, Volume: 93, Issue:12

    Topics: Animals; Arginase; Disease Models, Animal; Genetic Association Studies; Humans; Hyperargininemia; Li

2015
Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism.
    The Journal of nutrition, 2004, Volume: 134, Issue:10 Suppl

    Topics: Animals; Arginine; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency Disease; Enz

2004
Contrasting features of urea cycle disorders in human patients and knockout mouse models.
    Molecular genetics and metabolism, 2008, Volume: 93, Issue:1

    Topics: Amino-Acid N-Acetyltransferase; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Syntha

2008
Urea cycle enzymopathies.
    Seminars in liver disease, 1982, Volume: 2, Issue:4

    Topics: Acetyltransferases; Adult; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Arg

1982
[Molecular basis of urea cycle disorders].
    Nihon rinsho. Japanese journal of clinical medicine, 1993, Volume: 51, Issue:2

    Topics: Alleles; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C

1993
[Urea cycle disorders].
    Ryoikibetsu shokogun shirizu, 1995, Issue:8

    Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamo

1995
Urea biosynthesis II. Normal and abnormal regulation.
    The American journal of clinical nutrition, 1978, Volume: 31, Issue:1

    Topics: Adrenal Cortex Hormones; Adrenal Glands; Ammonia; Animals; Argininosuccinate Synthase; Argininosucci

1978
[Prenatal diagnosis of enzymopathies of the urea cycle].
    Annales de biologie clinique, 1988, Volume: 46, Issue:7

    Topics: Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Femal

1988
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
    Reviews of physiology, biochemistry and pharmacology, 1987, Volume: 108

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synth

1987

Other Studies

24 other studies available for urea and ARG1 Deficiency

ArticleYear
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency.
    Proceedings of the National Academy of Sciences of the United States of America, 2019, 10-15, Volume: 116, Issue:42

    Topics: Ammonia; Animals; Arginase; Arginine; Codon; Disease Models, Animal; Glutamine; Hyperammonemia; Hype

2019
Arginase I mRNA therapy - a novel approach to rescue arginase 1 enzyme deficiency.
    RNA biology, 2018, Volume: 15, Issue:7

    Topics: Animals; Arginase; Arginine; Biological Therapy; HeLa Cells; Hep G2 Cells; Humans; Hyperargininemia;

2018
Hereditary urea cycle diseases in Finland.
    Acta paediatrica (Oslo, Norway : 1992), 2008, Volume: 97, Issue:10

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Carbamoyl-Phosph

2008
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.
    Human mutation, 2009, Volume: 30, Issue:1

    Topics: Ammonia; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Aciduria; C

2009
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.
    Molecular genetics and metabolism, 2010, Volume: 100 Suppl 1

    Topics: Adolescent; Adult; Autopsy; Brain; Child; Child, Preschool; Follow-Up Studies; Guanidines; Humans; H

2010
Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency.
    Clinical biochemistry, 2012, Volume: 45, Issue:18

    Topics: Adolescent; Ammonia; Child; Hospitalization; Humans; Hyperammonemia; Hyperargininemia; Male; Recurre

2012
Genetic approach to prenatal diagnosis in urea cycle defects.
    Prenatal diagnosis, 2004, Volume: 24, Issue:5

    Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Argininosuccinate Synthase; Argininosuccinic Aci

2004
Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2.
    The international journal of biochemistry & cell biology, 2007, Volume: 39, Issue:3

    Topics: Arginase; Base Sequence; Carcinoma, Hepatocellular; Cell Line, Tumor; DNA Primers; Gene Expression;

2007
Hyperammonemia.
    Current problems in pediatrics, 1984, Volume: 14, Issue:11

    Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; A

1984
Hollow-fiber reactors containing mammalian arginase: an approach to enzyme replacement therapy.
    Biochemical medicine, 1982, Volume: 27, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginase; Drug Stability; Enzymes, Immobilized; Hydro

1982
Clinical and biochemical findings in argininemia.
    Advances in experimental medicine and biology, 1982, Volume: 153

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Child, Preschool; Consanguinity; Dietar

1982
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia.
    Advances in experimental medicine and biology, 1982, Volume: 153

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Female; Humans; Hyperargi

1982
Menstrual cycle and gonadal steroid effects on symptomatic hyperammonaemia of urea-cycle-based and idiopathic aetiologies.
    Journal of inherited metabolic disease, 1994, Volume: 17, Issue:5

    Topics: Adult; Ammonia; Contraceptives, Oral, Hormonal; Ethinyl Estradiol; Ethinyl Estradiol-Norgestrel Comb

1994
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan.
    Journal of inherited metabolic disease, 1998, Volume: 21 Suppl 1

    Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Humans; Hyperargininemia; Infan

1998
Proposed mechanism for urea nitrogen re-utilization: relationship between urea and proposed guanidine cycles.
    Clinical chemistry, 1979, Volume: 25, Issue:7

    Topics: Animals; Guanidines; Humans; Hydroxylation; Hyperargininemia; Microsomes, Liver; Models, Biological;

1979
Double deficiencies of urea cycle enzymes in human liver.
    Biochemical medicine, 1979, Volume: 21, Issue:2

    Topics: Ammonia; Animals; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthas

1979
Congenital hyperammonemic syndromes.
    Clinics in perinatology, 1976, Volume: 3, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria

1976
Familial hyperargininaemia.
    Archives of disease in childhood, 1975, Volume: 50, Issue:1

    Topics: Amino Acids; Ammonia; Arginine; Athetosis; Child, Preschool; Chromatography; Cystinuria; Dietary Pro

1975
Leukocyte urea cycle enzymes in hyperammonemia.
    Pediatric research, 1975, Volume: 9, Issue:6

    Topics: Ammonia; Animals; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Ac

1975
Urea-cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome.
    The New England journal of medicine, 1976, Apr-15, Volume: 294, Issue:16

    Topics: Adolescent; Adult; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Diseases; C

1976
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia.
    Clinical chemistry, 1976, Volume: 22, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Erythrocytes; Homozygote; Humans; Hyperarg

1976
[Molecular genetics of urea cycle diseases].
    Seikagaku. The Journal of Japanese Biochemical Society, 1990, Volume: 62, Issue:9

    Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Arginase; Argininosuccinate Ly

1990
Human arginase isozymes.
    Isozymes, 1987, Volume: 13

    Topics: Animals; Arginase; Arginine; Gene Expression Regulation; Humans; Hyperargininemia; Isoenzymes; Liver

1987
Disorders of the urea cycle.
    Hospital practice (Office ed.), 1985, Oct-15, Volume: 20, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Ca

1985