Page last updated: 2024-10-21

hydroxyindoleacetic acid and Smith-Lemli-Opitz Syndrome

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

(5-hydroxyindol-3-yl)acetic acid : A member of the class of indole-3-acetic acids that is indole-3-acetic acid substituted by a hydroxy group at C-5.

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 hydroxyindoleacetic 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