Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine.
作者： Abdel Ali Belaidi , Guenter Schwarz
DOI: 10.1007/978-1-4614-6093-0_2
关键词: Sulfite 、 Biochemistry 、 Hypotaurine 、 Molybdenum cofactor deficiency 、 Methionine 、 Metal metabolism 、 Chemistry 、 Sulfite oxidase 、 Taurine 、 Sulfite oxidase deficiency
摘要: Molybdenum cofactor deficiency (MoCD) is a rare inherited metabolic disorder characterized by severe and progressive neurologic damage mainly caused the loss of sulfite oxidase activity. Elevated urinary levels sulfite, thiosulfate, S-sulfocysteine (SSC) are hallmarks in diagnosis both MoCD deficiency. Sulfite generated throughout catabolism sulfur-containing amino acids cysteine methionine. Accumulated reacts with cystine, thus leading to formation SSC, glutamate analogue, which assumed cause N-methyl-D-aspartate receptor-mediated neurodegeneration patients. Recently, we described fast sensitive HPLC method for diagnostic treatment monitoring patients based on SSC quantification. In this study, extend analysis hypotaurine taurine urine samples no interference other compounds was found. Besides known elevation taurine, also shows strong accumulation patients, molecular basis not understood. hypotaurine, excretion values from control individuals as well reported over 20-fold increase determined demonstrating direct link between toxicity biosynthesis MoCD.
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