Table 1.
Clinical, biochemical, and genetic characteristics of patients with fatty acid oxidation disorders diagnosed by newborn screening
| No | Age at diagnosis | Age at last follow-up | Phenotype | Acylcarnitine | Gene | Allele 1 | Allele 2 | |
|---|---|---|---|---|---|---|---|---|
| Sample | Elevated acylcarnitine (value) | |||||||
| Very long chain acyl-CoA dehydrogenase deficiency | ||||||||
| 1 | 39 days | 3.7 years | recurrent rhabdomyolysis and hypertrophic cardiomyopathy after 7 months old | DBS | C14 (2.504 μM; ref., 0.006–0.166), C14:1 (1.097 μM; ref., 0.006–0.166) | ACADVL | c.[104_105ins10] (p.[P35fs*27]) a | c.[104_105ins5] (p.[P35fs*25]) a |
| 2 | 33 days | 5.8 years | recurrent rhabdomyolysis after 11 months | DBS | C14:1 (n.a.), C14 (n.a.), C14:2 (n.a.) | ACADVL | c.[1349G > A] (p.[R450H]) | c.[1349G > A] (p.[R450H]) |
| 3 | 25 days | 10 months | hypertrophic cardiomyopathy | DBS | C14:2 (0.581 μM; ref., 0.006–0.166), C14:1 (1.391 μM; ref., 0.034–0.599) | ACADVL | c.[103_112dup] (p.[R38P*26]) a | c.[1532G > A] (p.[R511Q]) |
| 4 | 49 days | 3.3 years | 1 episode of rhabdomyolysis | DBS | C14:1 (6.62 μM; ref., < 0.85) | ACADVL | c.[996_997ins(T)] (p.[A333C*26]) a | c.[552C > G] (p.[I184M]) a |
| 5 | 48 days | 2.0 years | asymptomatic | Plasma | C14 (0.184 μmol/L; ref., < 0.15), C14:2 (0.215 μmol/L; ref., < 0.13) | ACADVL | c.[1349G > A] (p.[R450H]) | ? |
| Medium chain acyl-CoA dehydrogenase deficiency | ||||||||
| 6 | 16 days | 4.5 years | asymptomatic | DBS | C8 (0.68 μM; ref., < 0.31) | ACADM | c.[617G > A] (p.[R206H]) | c.[1189 T > A] (p.[Y397N]) |
| 7 | 36 days | 3.5 years | asymptomatic | DBS | C6 (n.a.), C8 (n.a.), C10:1 (n.a.), C10 (n.a.) | ACADM | c.[1085G > A] (p.[G362E]) | c.[1189 T > A] (p.[Y397N]) |
| 8 | 51 days | 6.9 years | asymptomatic | DBS | C6 (0.46 μM; ref., < 0.22), C8 (1.66 μM; ref., < 0.35) | ACADM | c.[449_452del] (p.[Y150Rfs*4]) | c.[1189 T > A] (p.[Y397N]) |
| 9 | 56 days | 1.4 years | asymptomatic | DBS | C8 (2.98 μM; ref., < 0.37), C10:1 (0.58 μM; ref., < 0.40) | ACADM | c.[449_452del] (p.[Y150Rfs*4]) | c.[1085G > A] (p.[G362E]) |
| 10 | 153 days | 1.4 years | asymptomatic | Plasma | C6 (0.868 μmol/L; ref., < 0.18), C8 (5.067 μmol/L; ref., < 0.27), C10:1 (1.387 μmol/L; ref., < 0.46) | ACADM | c.[1189 T > A] (p.[Y397N]) | ? |
| Primary carnitine deficiency | ||||||||
| 11 | 53 days | 3.2 years | mild CK elevation, normal development | Plasma | C0 (4.1 μmol/L; ref., 12–46), Total carnitine (6.1 μmol/L; ref., 19–59) | SLC22A5 | c.[396G > A] (p.[W132*]) | c.[1400C > G] (p.[S467C]) |
| Carnitine palmitoyltransferase 1A deficiency | ||||||||
| 12 | 41 days | 5 months | normal development | Plasma | C0 (80.839 μmol/L; ref., < 62.10), C0/(C16 + C18) (123.5) | CPT1A | c.[748G > T] (p.V250 L) a | c.[1015C > T] (p.[R399*]) a |
| Long chain hydroxyacyl-CoA dehydrogenase/mitochondrial trifunctional protein deficiencies | ||||||||
| 13 | 26 days | Family history of sibling who died of lactic acidemia during the neonatal period. Died at age 49 | DBS | C16OH (n.a.), C16OH/C16 (n.a.), C18:1OH (n.a.), C14 (n.a.), C14OH (n.a.) | HADHA | c.[1689 + 2 T > G] (deletion of exon 16) | c.[1689 + 2 T > G] (deletion of exon 16) | |
| Short chain acyl-CoA dehydrogenase deficiency | ||||||||
| 14 | 141 days | 5 months | asymptomatic | Plasma | C4 (4.51 μmol/L; ref., < 1.06) | ACADS | c.[164C > T] (p.[P55L]) | c.[1041A > G] (p.[E344G]) |
aindicates novel mutations. DBS dried blood spot samples, n.a. not available