Taurine 8 pp 13-19 | Cite as

Molybdenum Cofactor Deficiency: Metabolic Link Between Taurine and S-Sulfocysteine

  • Abdel Ali BelaidiEmail author
  • Guenter Schwarz
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 776)


Molybdenum cofactor deficiency (MoCD) is a rare inherited metabolic disorder characterized by severe and progressive neurologic 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 both MoCD and sulfite oxidase deficiency. Sulfite is generated throughout the catabolism of sulfur-containing amino acids cysteine and methionine. Accumulated sulfite reacts with cystine, thus leading to the formation of SSC, a glutamate analogue, which is assumed to cause N-methyl-d-aspartate receptor-mediated neurodegeneration in MoCD patients. Recently, we described a fast and sensitive HPLC method for diagnostic and treatment monitoring of MoCD patients based on SSC quantification. In this study, we extend the HPLC method to the analysis of hypotaurine and taurine in urine samples and no interference with other compounds was found. Besides the known elevation of SSC and taurine, also hypotaurine shows strong accumulation in MoCD patients, for which the molecular basis is not understood. SSC, hypotaurine, and taurine urinary excretion values from control individuals as well as MoCD patients are reported and over 20-fold increase in taurine urinary excretion was determined for MoCD patients demonstrating a direct link between sulfite toxicity and taurine biosynthesis in MoCD.


Sulfite Oxidase Excretion Level Taurine Level Cysteine Sulfinic Acid Alkaline Picrate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Molybdenum cofactor


Molybdenum cofactor deficiency


Sulfite oxidase deficiency




High-performance liquid chromatography



We thank Sita Arjune for helpful discussions and Simona Jansen for technical support. This work was funded by the Center for Molecular Medicine Cologne grant D5 (to GS).


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Department of Chemistry and Center for Molecular Medicine CologneInstitute of Biochemistry, University of CologneCologneGermany

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