THE UTILIZATION OF TANDEM MASS SPECTROMETRY TECHNIQUES IN DIAGNOSIS OF PATIENTS WITH HOMOCYSTINURIAS

摘要

Homocystinurias (HCYU) are rare genetic disorders characterized by accumulation of homocysteine (Hcy) in the body due to defects in a) the remethylation (RMD) pathway or b) trans sulfuration pathway (cystathionine β-synthase deficiency -CBSD). Metabolism of Hcy depends also on supply, transport and intracellular metabolism of B vitamins. We developed tandem mass spectrometry methods enabling differential diagnosis of various types of HCYU.