Table 1.
Baseline demographics and clinical characteristics.
| Identification | Sex | Age at Dx (Years) | Age at Eye Visit (Years)
|
Years of Follow Up | Clinical Presentation | Variant #1 | Variant #2 | Residual enzyme activity (nmol/min/mg of protein)
|
Hx of >1 Episode Rhabdomyolysis | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| First Visit | Last Visit | LCHAD | Ketothiolase | ||||||||
| LCHADD | |||||||||||
|
| |||||||||||
| LC01 | M | 3 months | 4.4 | 12.5 | 8.1 | hypoketotic hypoglycemia | G1528C | G1528C | 11.8 | 38.6 | Y |
| LC02 | F | 9 months | 1.0 | 15.8 | 14.8 | hypoketotic hypoglycemia | G1528C | c.274-278del | Y | ||
| LC03 | F | DOL 3 | 0.8 | 5.8 | 5.0 | hypoketotic hypoglycemia | G1528C | G1528C | Y | ||
| LC04 | F | DOL 1 | 4.7 | 14.3 | 9.7 | hypoketotic hypoglycemia | G1528C | c.274-278del | 10.2 | 10.7 | Y |
| LC05 | M | 6 months | 9.5 | 15.8 | 6.3 | hypoketotic hypoglycemia | G1528C | Not Detected | Y | ||
| LC06 | M | 4 months | 1.0 | 7.6 | 6.6 | hypoketotic hypoglycemia | G1528C | G1528C | Y | ||
| LC07 | F | Birth, dx d/t sibling | 2.5 | 6.4 | 3.9 | none | G1528C | G1528C | Y | ||
| LC08 | F | 4 months | 2.1 | 12.7 | 10.6 | hypoketotic hypoglycemia | G1528C | G1528C | 10.7 | 21.0 | Y |
| LC09 | M | 5 months | 11.1 | 16.7 | 5.6 | hypoketotic hypoglycemia hypoketotic | G1528C | c.1678C>T | Y | ||
| LC10 | F | 3 months | 17.7 | 18.0 | 0.3 | hypoglycemia, cardiorespiratory arrest | G1528C | G1528C | Y | ||
| LC11 | F | 5 months | 0.8 | 3.3 | 2.4 | hypoketotic hypoglycemia | G1528C | T1678C | lost to f/u | ||
| LC12 | F | NBS | 1.4 | 5.3 | 3.8 | hypoglycemia | G1528C | Not Detected | Y | ||
| LC13 | M | 6 months | 5.6 | 9.8 | 4.2 | hypoketotic hypoglycemia hypoketotic | G1528C | G1528C | Y | ||
| LC14 | F | 6 months | 4.0 | 24.2 | 20.2 | hypoglycemia, cardiorespiratory arrest | G1528C | c.479-482T AGC>AATA | Y | ||
| LC15 | M | Birth, dx d/t sibling | 0.4 | 11.3 | 10.9 | none | G1528C | c.274-278del | Y | ||
| LC25 | F | NBS | 11.8 | 14.2 | 2.4 | none | G1528C | G1528C | Y | ||
| LC27 | M | Birth, dx d/t family hx | 1.6 | 9.2 | 7.6 | none | G1528C | G1528C | Y | ||
| LC31 | M | NBS | 1.4 | 5.4 | 4.0 | none | G1528C | splice site mutation (A+3G following exon 3) | N | ||
|
| |||||||||||
| TFPD | |||||||||||
|
| |||||||||||
| LC16 | F | 3 years | 10.3 | 15.5 | 5.2 | rhabdomyolysis | c.901G>A β-subunit | Not Detected | Y | ||
| LC17 | F | dx d/t sibling | 4.7 | 19.4 | 14.7 | none | c.901G>A β-subunit | Not Detected | 12.4 | 0.4 | Y |
| LC18 | M | DOL 2 | 1.0 | 6.3 | 5.3 | hypoketotic hypoglycemia | c.901G>A β-subunit | Not Detected | Y | ||
NBS=newborn screening. DOL=day of life. Dx=diagnosis. D/t= due to. “Not Detected” indicates that no second mutation was identified.