Detection by Mass Spectrometry of Highly Increased Amount of S- Sulfonated Transthyretin in Serum from a Patient with Molybdenum Cofactor Deficiency

被引：0
作者：
Masahiko Kishikawa
Toyofumi Nakanishi
Akira Shimizu
Makoto Yoshino
机构：
[1] Osaka Medical College,Department of Clinical Pathology
[2] 2–7,Department of Pediatrics and Child Health
[3] Daigaku-machi,undefined
[4] Kurume University School of Medicine,undefined
[5] 67,undefined
[6] Asahi-machi,undefined
来源：
Pediatric Research | 2000年 / 47卷
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摘要：
Serum transthyretin has several isoforms, most of which are caused by disulfide linkage with cysteine residue at position 10. We found an ion peak 80 D larger than unmodified transthyretin by electrospray ionization mass spectrometry and assigned it to S- sulfonated transthyretin. The peak height was <2% of total transthyretin in control sera from more than 200 individuals including infants. Transthyretin from a patient with molybdenum cofactor deficiency was analyzed, and the peak was prominent, higher than 85% of total transthyretin. In patients with this disease, the presence of elevated levels of sulfite leads to the formation of S-sulfonated cysteine. The peak can be used as a diagnostic marker for molybdenum cofactor deficiency, although more sera from patients with this disease should be tested.
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页码：492 / 494
页数：2
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