TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Belaidi, Abdel Ali
A1  - Arjune, Sita
A1  - Santamaria-Araujo, Jose Angel
A1  - Sass, Jörn Oliver
A1  - Schwarz, Guenter
T1  - Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum
JF  - JIMD Rep. (JIMD Reports)
N2  - Molybdenum cofactor deficiency (MoCD) is a rare inherited metabolic disorder characterized by severe and progressive neurological damage mainly caused by the loss of sulfite oxidase activity. Elevated urinary levels of sulfite, thiosulfate, and S-sulfocysteine (SSC) are hallmarks in the diagnosis of MoCD and sulfite oxidase deficiency (SOD). Recently, a first successful treatment of a human MoCD type A patient based on a substitution therapy with the molybdenum cofactor precursor cPMP has been reported, resulting in nearly complete normalization of MoCD biomarkers. Knowing the rapid progression of the disease symptoms in nontreated patients, an early diagnosis of MoCD as well as a sensitive method to monitor daily changes in SSC levels, a key marker of sulfite toxicity, is crucial for treatment outcome. Here, we describe a fast and sensitive method for the analysis of SSC in human urine samples using high performance liquid chromatography (HPLC). The analysis is based on precolumn derivatization with O-phthaldialdehyde (OPA) and separation on a C18 reverse phase column coupled to UV detection. The method was extended to human serum analysis and no interference with endogenous amino acids was found. Finally, SSC values from 45 pediatric urine, 75 adult urine, and 24 serum samples from control individuals as well as MoCD patients are reported. Our method represents a cost-effective technique for routine diagnosis of MoCD and SOD, and can be used also to monitor treatment efficiency in those sulfite toxicity disorders on a daily basis.
Y1  - 2012
SN  - 2192-8304
SS  - 2192-8304
U6  - https://doi.org/10.1007/8904_2011_89
DO  - https://doi.org/10.1007/8904_2011_89
PM  - 23430915
VL  - 5
SP  - 35
EP  - 43
PB  - Springer
ER  -