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2P-38 PDF
グリコシル化異常症の質量分析の現状と今後
Congenital disorder of glycosylation (CDG) is an emerging topic of inborn errors of metabolism, in which glycosylation of a variety of tissue proteins and/or lipids is deficient or structurally abnormal due to decreased function of glycoenzymes or to impaired integrity of organelle formation and vesicular transport. To date, approximately 70 different diseases have been identified in CDG. However, a significant number of patients remain undiagnosed, as the symptoms of CDG, including mental retardation, epilepsy and brain malformation, are so diverse. Mass spectrometry of transferrin is currently the essential tool for detection or diagnosis of CDG. Moreover, the glycoprofiles obtained by MS often suggest the causal defect of specific glycoenzymes, facilitating genetic analysis for definitive diagnosis. In my screening study of >1,400 developmental delay patients by MS, diagnosis of CDG was made in approximately 1% of these patients. MS is also useful to evaluate the treatment to improve molecular phenotypes.