No | Age at diagnosis | Age at last follow-up | Phenotype | Acylcarnitine | Gene | Allele 1 | Allele 2 | |
---|---|---|---|---|---|---|---|---|
Sample | Elevated acylcarnitine (value) | |||||||
Long chain hydroxyacyl-CoA dehydrogenase/mitochondrial trifunctional protein deficiencies | ||||||||
1 | 2.7 years | 11.3 years | Recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running and climbing stairs | DBS | C10OH (n.a.), C18OH (n.a.) | HADHB | c.[340A > G] (p. [N114D]) | c.[739C > T] (p.[R247C]) |
2 | 2.1 years | 11.9 years | Recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running, positive Gowers’ sign | DBS | C10 (n.a.), C12 (n.a.), C14:1 (n.a.), C14OH (n.a.), C16OH (n.a.), C18:1OH (n.a.) | HADHB | c.[340A > G] (p. [N114D]) | c.[919A > G] (p.[N307D]) |
3 | 4.8 years | 6.8 years | Recurrent rhabdomyolysis, sensorimotor polyneuropathy, difficulty running | DBS | C14OH (n.a.), C16OH (n.a.), C18OH (n.a.), C18:1OH (n.a.) | HADHB | c.[340A > G] (p. [N114D]) | c.[1148C > T] (p.[S383 L]) |
4 | 10.6 years | 23.3 years | Recurrent rhabdomyolysis, sensorimotor polyneuropathy, walk with assistance | DBS | C14OH (0.156 μM; ref., 0.003–0.87), C16OH (0.228 μM; ref., 0.003–0.083), C18OH (0.072 μM; ref., 0.003–0.055) | HADHB | c.[919A > G] (p.[N307D]) | c.[1165A > G] (p.[N389D]) |
5 | 1 day | – | Severe cardiomyopathy at first day of life. Died of lactic acidosis at 4 days old | DBS | C16OH, (0.86 μM; ref., < 0.15), C18OH (0.33 μM; ref., < 0.1), C18:1OH (0.48 μM; ref., < 0.08), C14:1 (0.66 μM; ref., < 0.35), C14 (1.35 μM; ref., < 0.86), C16:1 (0.54 μM; ref., < 0.25) | HADHA | c.[1793_1974del] (p.[H598Rfs*33]) | c.[1793_1974del] (p.[H598Rfs*33]) |
6 | 5 days | – | Presented with tachypnea and metabolic acidosis at 5 days old. Died at 9 days old due to cardiomyopathy | DBS | C14 (n.a.), C14OH (n.a.), C16OH (n.a.), C18OH (n.a.), C18:1OH (n.a.) | HADHB | c.[1136A > G] (p.[H379R]) | c.[1211dup] (p.[G404 fs*2]) a |
Very long chain acyl-CoA dehydrogenase deficiency | ||||||||
7 | 2Â months | 3.9Â years | Hypertrophic cardiomyopathy, recurrent rhabdomyolysis | DBS | C14:1 (n.a.), C14 (n.a.) | ACADVL | c.[997_998ins(T)] (p.[A333*]) a | c.[1770_1773del] (p.[S590*]) a |
Carnitine palmitoyltransferase 1A deficiency | ||||||||
8 | 33 months | 6.8 years | Recurrent hepatic failure, nephromegaly, hemolytic anemia, rhabomyolysis, developmental delay | Plasma | C0 (68.86 μmol/L; ref., < 62.10), C0/(C16 + C18) (1639) | CPT1A | c.[837_838insT] (p.[I279*]) | c.[947G > A] (p.[R316Q]) |