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uric acid and Amino Acid Metabolism Disorders, Inborn

uric acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 18 studies

Uric Acid: An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
uric acid : An oxopurine that is the final oxidation product of purine metabolism.
6-hydroxy-1H-purine-2,8(7H,9H)-dione : A tautomer of uric acid having oxo groups at C-2 and C-8 and a hydroxy group at C-6.
7,9-dihydro-1H-purine-2,6,8(3H)-trione : An oxopurine in which the purine ring is substituted by oxo groups at positions 2, 6, and 8.

Research Excerpts

ExcerptRelevanceReference
"A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described."3.66Methylmalonic acidemia. ( Akaboshi, I; Hattori, S; Matsuda, I; Nagata, N; Oka, Y; Shinozuka, S; Terashima, T; Yamamoto, J, 1978)

Research

Studies (18)

TimeframeStudies, this research(%)All Research%
pre-199014 (77.78)18.7374
1990's1 (5.56)18.2507
2000's1 (5.56)29.6817
2010's0 (0.00)24.3611
2020's2 (11.11)2.80

Authors

AuthorsStudies
Fargaly, H1
Mathew, S1
Rossi, NF1
Mhanni, AA1
Greenberg, CR1
Spriggs, EL1
Agatep, R1
Sisk, RR1
Prasad, C1
PANT, R1
AGRAWAL, HC1
Caldeira Araújo, H1
Smit, W1
Verhoeven, NM1
Salomons, GS1
Silva, S1
Vasconcelos, R1
Tomás, H1
Tavares de Almeida, I1
Jakobs, C1
Duran, M1
Niessen, KH1
Plöchl, E1
Bachmann, C1
Stöllinger, O1
Colombo, JP1
Rassem, T1
Czihak, G1
Grisar, T1
Pronicka, E1
Rowinska, E1
Bentkowski, Z1
Zawadzki, J1
Holme, E1
Lindstedt, S1
Matsuda, I1
Terashima, T1
Yamamoto, J1
Akaboshi, I1
Shinozuka, S1
Hattori, S1
Nagata, N1
Oka, Y1
Whelan, DT1
Ryan, E1
Spate, M1
Morris, M1
Hurley, RM1
Hill, R1
Berry, HK1
Sletten, K1
Aakesson, I1
Alvsaker, JO1
Reed, WB1
Passwell, J1
Zipperkowski, L1
Katznelson, D1
Szeinberg, A1
Crispin, M1
Pollak, S1
Goodman, R1
Bat-Miriam, M1
Cohen, BE1
Wyngaarden, JB1
Sperling, O1
Starmer, F1
Buist, NR1
Kennaway, NG1
Hepburn, CA1
Strandholm, JJ1
Ramberg, DA1
Berenberg, W1
Kang, ES1
Hooft, C1
Van Nevel, C1
De Schaepdryver, AF1

Reviews

1 review available for uric acid and Amino Acid Metabolism Disorders, Inborn

ArticleYear
[Diseases of the exocrine pancreas in infants and children. A review. 1. Organic pancreatic diseases].
    Fortschritte der Medizin, 1980, Feb-28, Volume: 98, Issue:8

    Topics: Amino Acid Metabolism, Inborn Errors; Amylases; Child, Preschool; Cholecystokinin; Cystic Fibrosis;

1980

Other Studies

17 other studies available for uric acid and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Hyperglycinuria: diagnosis in middle age.
    BMJ case reports, 2022, Mar-02, Volume: 15, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Kidney Calculi; Membrane Transport Proteins; M

2022
Isolated sulfite oxidase deficiency: a founder mutation.
    Cold Spring Harbor molecular case studies, 2020, Volume: 6, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Female; Genetic Predisposition to Disease; Humans; Male; Mutat

2020
ANALYSIS OF THE EXCRETORY MATERIAL OF ATTACUS RICINI IN THE FIFTH INSTAR LARVAL AND ADULT STAGES.
    Archives internationales de physiologie et de biochimie, 1963, Volume: 71

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Body Fluids; Bombyx; Chemistry Technique

1963
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
    American journal of medical genetics. Part A, 2005, Mar-01, Volume: 133A, Issue:2

    Topics: Abnormalities, Multiple; Adult; Alleles; Amino Acid Metabolism, Inborn Errors; Child; Creatinine; DN

2005
[Lethal neonatal deficiency of carbamyl phosphate synthetase (author's transl)].
    Padiatrie und Padologie, 1982, Volume: 17, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia);

1982
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.
    Advances in experimental medicine and biology, 1982, Volume: 153

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Arginin

1982
Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC).
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:2

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Child; Cyclohexanones; En

1996
Methylmalonic acidemia.
    European journal of pediatrics, 1978, Jul-03, Volume: 128, Issue:3

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Glycine; Humans; Hypoglycemia; Infa

1978
Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.
    Canadian Medical Association journal, 1979, May-19, Volume: 120, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child, Preschool; Female; Humans; Infant

1979
Screening for metabolic disorders among high risk infants and children.
    Health laboratory science, 1977, Volume: 14, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; Glycosaminoglyc

1977
Presence of ornithine in the urate-binding alpha-alpha2 globulin.
    Nature: New biology, 1971, May-26, Volume: 231, Issue:21

    Topics: Alpha-Globulins; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginase; Blood Protein Electrop

1971
[Genetic aspects in dermatology].
    Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1970, Volume: 21, Issue:1

    Topics: Adult; Alopecia; Amino Acid Metabolism, Inborn Errors; Athetosis; Carotid Body Tumor; Chorea; Chromo

1970
A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.
    The Journal of pediatrics, 1973, Volume: 82, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Atrophy; Biopsy; Child; Consanguinity; Dermatoglyp

1973
A reappraisal of the concept of an abnormality of glutamine metabolism in primary gout.
    Transactions of the American Clinical and Climatological Association, 1973, Volume: 84

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Benzoates; Carbon Isotopes; Diet; Glutamine

1973
Citrullinemia: investigation and treatment over a four-year period.
    The Journal of pediatrics, 1974, Volume: 85, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrulline;

1974
The congenital hyperammonemic syndrome.
    Developmental medicine and child neurology, 1971, Volume: 13, Issue:3

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Diet Therapy; Dietary Proteins

1971
Hyperuricosuric encephalopathy without hyperuricaemia.
    Archives of disease in childhood, 1968, Volume: 43, Issue:232

    Topics: Amino Acid Metabolism, Inborn Errors; Body Weight; Brain Diseases; Carbon Isotopes; Child, Preschool

1968