Table 2.
Quantitative analysis of urinary organic acid analysis during acute crises and stable conditions
| Patients | Acute crises | Stable conditions | ||
|---|---|---|---|---|
| 2M3HB | Tiglylglycine | 2M3HB | Tiglylglycine | |
| GK69 | NA | NA | 14.0 | 13.3 |
| GK77b | 405.7 | 45.8 | NA | NA |
| GK77 | 160.2 | 6.7 | 27.3 | 14.8 |
| GK01 | NA | NA | 399.1 | 732.1 |
| GK(Ind) | 484.6 | 503.9 | 195.1 | 797.6 |
| Controls (n = 42) | 10.7 ± 7.6 | 24.6 ± 14.6 | ||
Values are expressed as mmol/mol creatinine
NA means that samples were not available for the analysis. GK01 is a compound heterozygote of c.149delC and A333P, which retained no residual activity (Fukao et al. 1998). GK(Ind) indicates a patient with typical T2-deficient profiles of urinary organic acids in our screening