Page last updated: 2024-10-19

phenylpyruvic acid and Down Syndrome

phenylpyruvic acid has been researched along with Down Syndrome in 1 studies

phenylpyruvic acid: RN given refers to parent cpd
phenylpyruvate : A 2-oxo monocarboxylic acid anion resulting from deprotonation of the carboxy group of either keto- or enol-phenylpyruvic acid.
keto-phenylpyruvic acid : A 2-oxo monocarboxylic acid that is 3-phenylpropanoic acid substituted by an oxo group at position 2. It is an intermediate metabolite in the phenylalanine pathway.

Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

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
Baggot, PJ1
Eliseo, AJ1
DeNicola, NG1
Kalamarides, JA1
Shoemaker, JD1

Other Studies

1 other study available for phenylpyruvic acid and Down Syndrome

ArticleYear
Organic acid concentrations in amniotic fluid found in normal and Down syndrome pregnancies.
    Fetal diagnosis and therapy, 2008, Volume: 23, Issue:3

    Topics: Amniocentesis; Amniotic Fluid; Biomarkers; Carboxylic Acids; Case-Control Studies; Down Syndrome; Fe

2008