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Literature summary for 1.1.1.211 extracted from

  • Malvagia, S.; Haynes, C.A.; Grisotto, L.; Ombrone, D.; Funghini, S.; Moretti, E.; McGreevy, K.S.; Biggeri, A.; Guerrini, R.; Yahyaoui, R.; Garg, U.; Seeterlin, M.; Chace, D.; De Jesus, V.R.; la Marca, G.
    Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias (2015), Clin. Chim. Acta, 450, 342-348.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
diagnostics 3-hydroxypalmitoleoyl-carnitine and other hydroxylated long chain acylcarnitines are markers of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and/or trifunctional protein (TFP) deficiency, while heptadecanoylcarnitine is a biomarker specific for propionic acidemia (PA) or methylmalonic acidemia (MMA) patients able to detect propionate disorders during expanded newborn screening Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P40939
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-

Synonyms

Synonyms Comment Organism
LCHAD
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 Homo sapiens
long-chain 3-hydroxyacyl-CoA dehydrogenase
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 Homo sapiens

General Information

General Information Comment Organism
malfunction long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and trifunctional protein (TFP) deficiency are accompanied by increased levels of 3-hydroxypalmitoleoyl-carnitine combined with other hydroxylated long chain acylcarnitines, analysis of acylcarnitine profile of two LCHADD patients, overview. Patients with propionic acidemia (PA) or methylmalonic acidemia (MMA) also show high levels of 3-hydroxypalmitoleoyl-carnitine and heptadecanoylcarnitine Homo sapiens