Study of transaldolase deficiency in urine samples by capillary LC-MS/MS

✍ Scribed by György Vas; Karina Conkrite; Wendy Amidon; Yueming Qian; Katalin Bánki; András Perl

• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 175 KB
• Volume: 41
• Category: Article
• ISSN: 1076-5174
• DOI: 10.1002/jms.1004

✦ Synopsis

Abstract

Transaldolase (TAL) is a key enzyme of the pentose phosphate pathway (PPP). TAL deficiency is a newly recognized cause of liver cirrhosis. We have developed an ion‐pair LC separation combined with negative ion electrospray MS/MS detection method to assess PPP metabolites in urine samples from TAL‐deficient mice. Sedoheptulose 7‐phosphate (S7P), C5‐polyols D‐arabitol and D‐ribitol, and 6‐phosphogluconate (6PG) levels were markedly increased in urine of TAL‐deficient mice with respect to those of wild‐type and heterozygote littermates. The detection limits of S7P, D‐arabitol, and 6PG were 0.15 ± 0.015 pmol, 3.5 ± 0.41 pmol, and 0.61 ± 0.055 pmol, respectively. The limit of quantitation was 0.4 ± 0.024 nmol/ml for S7P, 1.6 ± 0.11 nmol/ml for 6PG and 10 ± 0.7 nmol/ml for D‐arabitol. Additional metabolites, hexose 6‐phosphates (m/z 259), D‐ribose 5‐phosphate and D‐xylulose 5‐phosphate (m/z 229), D‐fructose 1,6‐diphosphate (m/z 339), C6‐polyols (m/z 181) and GSSG (m/z 611), that have been positively identified in mouse urine, showed similar levels in control and TAL‐deficient mice. Copyright © 2006 John Wiley & Sons, Ltd.