Page last updated: 2024-10-19

orotic acid and Tyrosinemias

orotic acid has been researched along with Tyrosinemias in 1 studies

Orotic Acid: An intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE.
orotic acid : A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6.

Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bal, D1
Kraska-Dziadecka, A1
Gradowska, W1
Gryff-Keller, A1

Other Studies

1 other study available for orotic acid and Tyrosinemias

ArticleYear
Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy.
    Acta biochimica Polonica, 2008, Volume: 55, Issue:1

    Topics: Biomarkers; Canavan Disease; Glutarates; Hemiterpenes; Humans; Lactic Acid; Magnetic Resonance Spect

2008