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