Table 2.
Clinical guidelines for screening defects of fatty acid metabolism
| Enzyme/cofactor | Phenotype | |||
|---|---|---|---|---|
| Myopathy, hypotonia | Cardiomyopathy | Myoglobinuria | Hypoglycaemia, hypoketonaemia | |
| Fatty acid transport | ||||
| Carnitine (OCTN2 gene mutations) | ++ | ++ | − | ++ |
| Carnitine palmitoyl transferase | ± | + | ++ | + |
| Beta-oxidation enzymes | ||||
| Long-chain acyl-CoA dehydrogenase | ++ | + | + | ++ |
| Medium-chain acyl-CoA dehydrogenase | ± | ± | − | ++ |
| Short-chain acyl-CoA dehydrogenase | + | ± | − | + |
| 3-Hydroxy acyl-CoA dehydrogenase | + | ++ | − | ++ |
| Neutral lipid storage (NLS) diseases | ||||
| NLSD-M | ++ | + | − | − |
| NLSD-I | + | − | − | − |
| Transferring flavoproteins | ||||
| Electron transfer flavoprotein (ETF) | ± | ± | − | ++ |
| ETF coenzyme Q reductase (ETF-QO) | ± | − | − | ++ |
| Riboflavin-responsive forms (RR-MADD) | + | − | − | ++ |
++ present, + sometimes present, ± rarely observed, − absent