Table 6.
Urinary L-2-HG concentrations in reported patients and controls
| L-2-HGA patients (n) | Urinary L-2-HG (mmol/mol creat.) | References |
|---|---|---|
| Controls (18) | 1.3- 19 | Gibson et al 1993a |
| L-2-HGA (9) | 332-2742 | Gibson et al 1993a |
| L-2-HGA (12) | 226-4299 | Barth et al 1993 |
| L-2-HGA (7) | 630-1420 | Barbot et al 1997 |
| L-2-HGA (29) | 1000-5520 | Topcu et al 2005 |
| L-2-HGA (15) | 671-3392 | Kranendijk et al 2009 |
| L-2-HGA (106) | 350-3357 | Steenweg et al 2010 |
| L-2-HGA (mutations L2HGDH) | Steenweg et al 2010 | |
| c.905C>T (6) | 1090 p = 0.012# | |
| c.530_533delinsATT (9) | 2147 | |
| L-2-HGA (mutations L2HGDH) | Steenweg et al 2010 | |
| missense mutations (28) | 1431 p = 0.012# | |
| presumed null mutations (28) | 1916 |
# Significant differences were found between L-2-HGA patient groups carrying a “mild” missense mutation compared to a “severe” presumed null mutation, showing 25-50% lower urinary L-2-HG levels in the former group