TABLE 1

Short-chain acylcarnitines and diseases with altered short-chain acylcarnitine levels in blood (serum, plasma, dried blood spots) or urine

Acylcarnitine (Fatty Acid Moiety)SampleIncreased/ decreasedDisease with Altered Acylcarnitine Concentration
Acetylcarnitine (C2:0)BloodIncreasedVery long-chain acyl-CoA dehydrogenase deficiency (Costa et al., 1997); colorectal cancer (Ni et al., 2014); short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Clayton et al., 2001); paclitaxel-induced neuropathy (Sun et al., 2018); type 2 diabetes (Adams et al., 2009; Mai et al., 2013; Ciborowski et al., 2015; Abu Bakar and Sarmidi, 2017); chronic heart failure (Ueland et al., 2013); ornithine transcarbamylase (Ohtani et al., 1988); prediabetes (Wang-Sattler et al., 2012; Mai et al., 2013); type 1 diabetes (Adal et al., 2006); methylmalonic acidemia (Minkler and Hoppel, 1993); myeloma (Steiner et al., 2018); diastolic heart failure (Zordoky et al., 2015)
Decreased3-Methyl-crotonyl-glycinuria (Thomsen et al., 2015); antiviral drug induced neuropathy (Famularo et al., 1997; James, 1997); Alzheimer’s disease (Cristofano et al., 2016); major depressive disorder (Nasca et al., 2018); carnitine palmitoyltransferase 2 deficiency (Hori et al., 2010); familial Mediterranean fever (Kiykim et al., 2016); chronic fatigue syndrome (Kuratsune et al., 1998); methylmalonic acidemia (Vernez et al., 2004); hepatocellular carcinoma (Lu et al., 2016; Takaya et al., 2019); coronary artery disease (Shah et al., 2010)
UrineIncreasedColorectal cancer (Ni et al., 2014); uterine fibroids (Wang et al., 2020); heart failure (Matsui et al., 1994); diabetes (Dellow et al., 1999); hepatocellular carcinoma (Ladep et al., 2014)
DecreasedCarnitine palmitoyltransferase 2 deficiency (Hori et al., 2010)
Propionylcarnitine (C3:0)BloodIncreasedMethylmalonic academia/methylmalonyl-CoA mutase (Ghoraba et al., 2015; Han et al., 2015; Keyfi et al., 2019; Kang et al., 2020); propionic academia/mitochondrial propionyl-CoA carboxylase deficiency (Monostori et al., 2017; Curnock et al., 2020); obesity and type 2 diabetes (Libert et al., 2018); cobalamin C deficiency (Rahmandar et al., 2014); chronic heart failure (Ueland et al., 2013); diastolic heart failure (Zordoky et al., 2015); systolic heart failure (Zordoky et al., 2015)
DecreasedFamilial Mediterranean fever (Kiykim et al., 2016); type 2 diabetes (Adams et al., 2009)
UrineDecreasedObesity (Cho et al., 2017a)
Butyrylcarnitine (C4:0)BloodIncreasedShort-chain acyl-CoA dehydrogenase (Dawson et al., 1995; Young et al., 2003; van Maldegem et al., 2006; 2010; Battisti et al., 2007; Forni et al., 2010; Gallant et al., 2012; Lampret et al., 2015; An et al., 2016; Tonin et al., 2016); glutaric aciduria 2 (Forni et al., 2010; Prasad and Hussain, 2015); heart failure (Cheng et al., 2015); ethylmalonic encephalopathy (Zafeiriou et al., 2007; Drousiotou et al., 2011); nonalcoholic fatty liver disease (Kalhan et al., 2011); obesity (Butte et al., 2015); systolic heart failure (Zordoky et al., 2015)
DecreasedCeliac disease (Bene et al., 2005); acute cerebral infarction (Zhang et al., 2017b)
UrineIncreasedShort-chain acyl-CoA dehydrogenase deficiency (Bhala et al., 1995); obesity (Cho et al., 2017a)
Valerylcarnitine (C5:0)BloodIncreasedExudative age-related macular degeneration (Chao de la Barca et al., 2020); type 2 diabetes (Mihalik et al., 2010; Sun et al., 2020); obesity (Mihalik et al., 2010); acute cerebral infarction (Zhang et al., 2017b); diastolic heart failure (Zordoky et al., 2015); systolic heart failure (Zordoky et al., 2015)
DecreasedPregnancy [(Bahado-Singh et al., 2014) – in serum of pregnant women with fetus with congenital heart defect]