Page last updated: 2024-10-18

glycolic acid and Zellweger Syndrome

glycolic acid has been researched along with Zellweger Syndrome in 1 studies

glycolic acid: RN given refers to parent cpd
glycolic acid : A 2-hydroxy monocarboxylic acid that is acetic acid where the methyl group has been hydroxylated.

Zellweger Syndrome: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

Research Excerpts

ExcerptRelevanceReference
"Its deficiency causes primary hyperoxaluria type 1 (PH1, MIM 259900), an inborn error of glyoxylate metabolism characterized by hyperoxaluria, nephrocalcinosis, and renal insufficiency."1.33High incidence of hyperoxaluria in generalized peroxisomal disorders. ( Barth, PG; Duran, M; Groothoff, JW; Poll-The, BT; van Woerden, CS; Wanders, RJ; Wijburg, FA, 2006)

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
van Woerden, CS1
Groothoff, JW1
Wijburg, FA1
Duran, M1
Wanders, RJ1
Barth, PG1
Poll-The, BT1

Other Studies

1 other study available for glycolic acid and Zellweger Syndrome

ArticleYear
High incidence of hyperoxaluria in generalized peroxisomal disorders.
    Molecular genetics and metabolism, 2006, Volume: 88, Issue:4

    Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Glycolates; Humans; Hyperoxaluria; Infant; Kidn

2006