Page last updated: 2024-10-17

creatine and Ornithine Carbamoyltransferase Deficiency Disease

creatine has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 3 studies

Ornithine Carbamoyltransferase Deficiency Disease: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)

Research Excerpts

ExcerptRelevanceReference
"Ornithine transcarbamylase deficiency (OTCD) is pleomorphic congenital hyperammonemia, in which the prognosis of the patient is determined both by genotype and environmental factors."3.96Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency. ( Cai, YN; Jiang, MY; Li, XZ; Lin, YT; Liu, L; Mei, HF; Peng, MZ; Shao, YX; Sheng, HY; Su, L; Yin, X, 2020)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's1 (33.33)24.3611
2020's1 (33.33)2.80

Authors

AuthorsStudies
Peng, MZ1
Li, XZ1
Mei, HF1
Sheng, HY1
Yin, X1
Jiang, MY1
Cai, YN1
Su, L1
Lin, YT1
Shao, YX1
Liu, L1
Auray-Blais, C1
Maranda, B1
Lavoie, P1
Potter, M1
Hammond, JW1
Sim, KG1
Green, AK1
Wilcken, B1

Trials

1 trial available for creatine and Ornithine Carbamoyltransferase Deficiency Disease

ArticleYear
Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:1

    Topics: Adolescent; Adult; Creatine; Dietary Proteins; Female; Food; Genetic Carrier Screening; Humans; Male

2001

Other Studies

2 other studies available for creatine and Ornithine Carbamoyltransferase Deficiency Disease

ArticleYear
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
    Clinical biochemistry, 2020, Volume: 84

    Topics: Adolescent; Adult; Ammonia; Arginine; Child; Child, Preschool; China; Creatine; Female; Humans; Hype

2020
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2014, Sep-25, Volume: 436

    Topics: Biomarkers; Creatine; Creatinine; Filtration; Glycine; Humans; Hyperammonemia; Infant, Newborn; Orni

2014