Page last updated: 2024-11-08

serine and Tyrosinemias

serine has been researched along with Tyrosinemias in 1 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

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
Bliksrud, YT1
Brodtkorb, E1
Andresen, PA1
van den Berg, IE1
Kvittingen, EA1

Other Studies

1 other study available for serine and Tyrosinemias

ArticleYear
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
    Journal of molecular medicine (Berlin, Germany), 2005, Volume: 83, Issue:5

    Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Cloning, Molecular; Codon; D

2005