Page last updated: 2024-11-08

serine and Propionic Acidemia

serine has been researched along with Propionic Acidemia in 1 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.

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
Anzmann, AF1
Pinto, S1
Busa, V1
Carlson, J1
McRitchie, S1
Sumner, S1
Pandey, A1
Vernon, HJ1

Other Studies

1 other study available for serine and Propionic Acidemia

ArticleYear
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
    Biochimica et biophysica acta. Molecular basis of disease, 2019, 12-01, Volume: 1865, Issue:12

    Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fibroblasts; HEK293 Cells; Humans; Metabolome

2019