Table 2.
Summary of studies of the occurrence of FAOD in cases of sudden unexpected death
| Study (reference) | No. | Sample | Comments |
|---|---|---|---|
| Boles et al. (16) Maryland and Connecticut | 418 SIDS | Retrospective study of SIDS (313), accident or abuse (34), 45 cases with infections | All cases of accident or abuse tested negative, 14 profiles were diagnostic for FAOD or OA (4.5%). FAOD diagnosed were MCAD, VLCAD, LCHAD, and carnitine uptake defect |
| Chace et al. (77) US and Canada | 7058 | Retrospective study on filer paper blood spots from infants who died due to unknown cause | 66 specimens (0.93%) tested positive, 34.8% cases had MCAD deficiency, 13.6% had VLCAD, 9% had CPT-II and CACT and 6% LCHAD deficiency |
| Wilcox et al. (78) Oregon | 247 SUDI | Retrospective postmortem study on newborn screening Guthrie card of SUDI cases over 5 y | MS/MS analysis found that 1.2% cases of SUDI were due to FAOD |