Gene |
Chromosome |
Location |
Syndrome |
ACADM | 1 | p31.1 | Medium-chain acyl-CoA dehydrogenase deficiency | |
ACADS | 12 | q24.31 | Short-chain acyl-CoA dehydrogenase deficiency | |
ACADVL | 17 | p13.1 | Very long-chain acyl-CoA dehydrogenase deficiency | |
CPT1A | 11 | q13.3 | Carnitine palmitoyltransferase I deficiency | |
HADH | 4 | q25 | 3-hydroxyacyl-CoA dehydrogenase deficiency | |
HADHA | 2 | p23.3 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | |
HADHA | 2 | p23.3 | Mitochondrial trifunctional protein deficiency | |
HADHB | 2 | p23.3 | Mitochondrial trifunctional protein deficiency | |
HMGCL | 1 | p36.11 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | |
MCCC1 | 3 | q27.1 | 3-methylcrotonyl-CoA carboxylase deficiency | |
MCCC2 | 5 | q13.2 | 3-methylcrotonyl-CoA carboxylase deficiency | |
PTGER2 | 14 | q22.1 | aspirin-induced susceptibility to asthma | |
SLC22A5 | 5 | q31.1 | Primary carnitine deficiency | |