Page last updated: 2024-10-19

orotic acid and Rett Syndrome

orotic acid has been researched along with Rett Syndrome in 3 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.

Rett Syndrome: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)

Research Excerpts

ExcerptRelevanceReference
"The in vivo functioning of the urea cycle in the Rett syndrome (RS) was investigated using alanine load test."7.68The urea cycle in the Rett syndrome. ( Hjelm, M; Oberholzer, V; Thomas, S; Wilson, J, 1990)
"The in vivo functioning of the urea cycle in the Rett syndrome (RS) was investigated using alanine load test."3.68The urea cycle in the Rett syndrome. ( Hjelm, M; Oberholzer, V; Thomas, S; Wilson, J, 1990)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Pineda, M1
Vilaseca, MA1
Vernet, A1
Campistol, J1
Mas, A1
Fabrega, C1
Carpenter, KH1
Bonham, JR1
Clarke, A1
Thomas, S1
Oberholzer, V1
Wilson, J1
Hjelm, M1

Trials

1 trial available for orotic acid and Rett Syndrome

ArticleYear
the allopurinol test in patients with Rett syndrome.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:3

    Topics: Acids; Adolescent; Allopurinol; Amino Acids; Child; Citrulline; Female; Humans; Ornithine Carbamoylt

1993

Other Studies

2 other studies available for orotic acid and Rett Syndrome

ArticleYear
Rett's syndrome and ornithine carbamoyltransferase deficiency.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:3

    Topics: Alanine; Ammonia; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Re

1990
The urea cycle in the Rett syndrome.
    Brain & development, 1990, Volume: 12, Issue:1

    Topics: Adult; Ammonia; Child; Child, Preschool; Female; Humans; Middle Aged; Orotic Acid; Rett Syndrome; Ur

1990