Page last updated: 2024-10-21

homovanillic acid and Smith-Lemli-Opitz Syndrome

homovanillic acid has been researched along with Smith-Lemli-Opitz Syndrome in 1 studies

Homovanillic Acid: A 3-O-methyl ETHER of (3,4-dihydroxyphenyl)acetic acid.
homovanillate : A hydroxy monocarboxylic acid anion which is obtained by deprotonation of the carboxy group of homovanillic acid.
homovanillic acid : A monocarboxylic acid that is the 3-O-methyl ether of (3,4-dihydroxyphenyl)acetic acid. It is a catecholamine metabolite.

Smith-Lemli-Opitz Syndrome: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

Research

Studies (1)

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

Authors

AuthorsStudies
Sparks, SE1
Wassif, CA1
Goodwin, H1
Conley, SK1
Lanham, DC1
Kratz, LE1
Hyland, K1
Gropman, A1
Tierney, E1
Porter, FD1

Other Studies

1 other study available for homovanillic acid and Smith-Lemli-Opitz Syndrome

ArticleYear
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:3

    Topics: Adolescent; Child; Child, Preschool; Cholesterol; Cross-Over Studies; Female; Homovanillic Acid; Hum

2014