Table 1.
Characteristics of subjects
| Subject | Gender | Mutations | Age at enrollment (years) |
DHA supplementation |
Residual enzyme activity (nmol/min/mg Protein) |
||
|---|---|---|---|---|---|---|---|
| Dose (mg/day) |
Time supplemented (years) |
LCHADa | Ketothiolasea | ||||
| 1#(15) | F | c.901G > A β-subunit/? | 10 | 130 | 4 | 12.4 | 0.4 |
| 2 | M | c.1528G > C/c.1528G > C | 7 | 130 | 4 | 11.8 | 38.6 |
| 3# | F | c.901G > A β-subunit/? | 5 | 130 | 4 | NA | NA |
| 4(12) | F | c.1528G > C/c.274_278del | 1 | 65 | 4 | 10.2 | 10.7 |
| 5(11) | F | c.1528G > C/c.1528G > C | 1 | 65 | 4 | NA | NA |
| 6(15) | M | β-subunit/β-subunit | 1 | 65 | 4 | ||
| 7(15) | F | c.1528G > C/c.1528G > C | 6 | 130 | 4 | 10.7 | 21.0 |
| 8(12) | F | c.1528G > C /c.274_278del | 1 | 65 | 4 | 0.4 | NA |
| 9f | F | c.1528G > C/c.1528G > C | 3 | 65 | 3 | NA | NA |
| 10f | M | c.1528G > C/c.1528G > C | 4 | 65 | 3 | NA | NA |
| 11 | M | c.1528G > C/? | 9 | 130 | 4 | NA | NA |
| 12(12) | F | c.1528G > C/5 bp del at exon 15/intron boundary |
1 | 65 | 2 | NA | NA |
| 13(12) | F | c.1528G > C/c.1132C > T | 2 | 130 | 5 | NA | NA |
| 14(13) | M | c.1528G > C/c.1678C > T | 5 | 130 | 5 | NA | NA |
Mutations are given as the change in the cDNA (c.) of the α-subunit of the trifunctional protein unless otherwise noted. Superscripts to the subject numbers indicate the literature reference for those subjects with previously published mutation analysis. “?” indicates alleles in which no mutations were identified following the sequencing of exons in both the α and β subunits. Patients have one known mutation and clinical and biochemical evidence of LCHAD/TFP deficiency. “#/f” symbols indicate siblings. MVM=multi-vitamin and mineral supplement; Portagen=infant formula made by Mead Johnson Nutritionals; Alimentum=infant formula made by Ross Products, Abbott Laboratories.
Normal range of LCHAD=43.6–89.9 nmol/min/mg protein; normal range of ketothiolase=16.4–43.0 nmol/min/mg protein.