Page last updated: 2024-11-04

succinylacetone and Inborn Errors of Metabolism

succinylacetone has been researched along with Inborn Errors of Metabolism in 4 studies

succinylacetone: inhibitor of heme biosynthesis
4,6-dioxoheptanoic acid : A dioxo monocarboxylic acid that is heptanoic acid in which oxo groups replace the hydrogens at positions 4 and 6. It is an abnormal metabolite of the tyrosine metabolic pathway and a marker for type 1 tyrosinaemia.

Research Excerpts

ExcerptRelevanceReference
"Screening for Tyrosinemia type 1 using tandem mass spectrometry measurement of succinylacetone from dried blood spots appears to be promising."2.55Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy. ( Clarke, A; Fraser, H; Freeman, K; Geppert, J; Johnson, S; Stinton, C; Sutcliffe, P; Taylor-Phillips, S, 2017)
"Newborn screening for tyrosinemia type I (Tyr-I) is mandatory to identify infants at risk before life-threatening symptoms occur."1.38Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine. ( Gottschalk, A; Herkner, KR; Kasper, DC; Lukačin, R; Mechtler, TP; Merk, M; Metz, TF, 2012)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19901 (25.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (75.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Céspedes, N1
Valencia, A1
Echeverry, CA1
Arce-Plata, MI1
Colón, C1
Castiñeiras, DE1
Hurtado, PM1
Cocho, JA1
Herrera, S1
Arévalo-Herrera, M1
Stinton, C1
Geppert, J1
Freeman, K1
Clarke, A1
Johnson, S1
Fraser, H1
Sutcliffe, P1
Taylor-Phillips, S1
Metz, TF1
Mechtler, TP1
Merk, M1
Gottschalk, A1
Lukačin, R1
Herkner, KR1
Kasper, DC1
Gagné, R1
Lescault, A1
Grenier, A1
Laberge, C1
Mélançon, SB1
Dallaire, L1

Reviews

1 review available for succinylacetone and Inborn Errors of Metabolism

ArticleYear
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
    Orphanet journal of rare diseases, 2017, 03-09, Volume: 12, Issue:1

    Topics: Heptanoates; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Tandem Mass Spe

2017

Other Studies

3 other studies available for succinylacetone and Inborn Errors of Metabolism

ArticleYear
Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.
    Colombia medica (Cali, Colombia), 2017, Sep-30, Volume: 48, Issue:3

    Topics: Amino Acids; Biomarkers; Carnitine; Colombia; Cross-Sectional Studies; False Positive Reactions; Hep

2017
Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.
    Clinica chimica acta; international journal of clinical chemistry, 2012, Aug-16, Volume: 413, Issue:15-16

    Topics: Dried Blood Spot Testing; Heptanoates; Humans; Hydrazines; Infant, Newborn; Mass Spectrometry; Metab

2012
Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid.
    Prenatal diagnosis, 1982, Volume: 2, Issue:3

    Topics: Amniotic Fluid; Female; Genes, Recessive; Heptanoates; Heptanoic Acids; Humans; Hydrolases; Liver; M

1982