Acylcarnitine | Source | Change | Disorder to consider |
Carnitine (total) | P,B | ââ | Carnitine transporter deficiency GA-I MCAD VLCAD LCHAD |
Acetyl (C2) | P,B | â | Carnitine deficiency |
Propionyl (C3) | P,B | áá | Propionic acidemia Methylmalonic acidemia |
P,B | á | Holocarboxylase synthetaase deficiency Biotinidase deficiency |
|
Butyryl/Isobutyryl (C4) | P,B | áá | SCAD deficiency |
P,B | á | SCAD deficiency ("mild" variant) Isobutyryl-CoA dehdrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency |
|
Tiglyl/3-Methylcrotonyl (C5:1) | P,B | á | 3-Oxothiolase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency |
Isovaleryl/2-Methylbutyryl (C5) | P,B | áá | Isovaleric acidemia |
P,B | á | 2-Methylbutyryl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency |
|
3-Hydroxyisovaleryl (C5-OH) | P,B | áá | 3-Methylcrotonyl-CoA carboxylase deficiency |
P,B | á | 3-OH-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency Holocarboxylase synthetase deficiency Biotinidase deficiency |
|
3-HO-2-Me-Butyryl (C5-OH) | P,B | á | 3-Oxotholase deficiency |
Methylmalonyl (C4-DC) | P,B | á | Methylmalonic acidemia |
Glutaryl (C5-DC) | P,B | á | Glutaric acidemia, type I (GA-I) |
Hexanoyl (C6) | P,B | á | MCAD defieincy, MAD deficiency |
Octanoyl (C8) | P,B | áá | MCAD deficiency |
P,B | á | MCAD deficiency, MAD deficiency | |
Decenoyl (C10:1) | P,B | á | MCAD deficiency |
Methylglutaryl (C6-DC) | P,B | á | HMG-CoA lyase deficiency |
Decanoyl (C10) | P,B | á | MAD deficiency |
Dodecanoyl (C12) | P,B | á | MAD deficiency |
Tetradodecenoyl (C14:2) | P,B | á | VLCAD deficiency |
Tetradecenoyl (C14:1) | P,B | á | VLCAD deficiency |
Tetradecanoyl (C14) | P,B | á | VLCAD deficiency, MAD deficiency |
Palmitoyl (C16) | P,B | á | VLCAD deficiency CPT-II deficiency CAT deficiency LCHAD deficiency MAD deficiency |
B | â | CPT-I deficiency | |
Linoleoyl (C18:1) | P,B | á | VLCAD deficiency CPT-II deficiency CAT deficiency LCHAD deficiency |
B | â | CPT-I deficiency | |
3-Hydroxypalmitoyl (C16-OH) | P,B | á | LCHAD deficiency TFP deficiency |
3-Hydroxylinoleoyl (C18:1-OH) | P,B | á | LCHAD deficiency TFP deficiency |