ヤマモト　トシユキ   Yamamoto Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
掲載誌名	正式名：Brain & Development ISSNコード：03877604
掲載区分	国外
巻・号・頁	39(5),pp.422-425
著者・共著者	Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T.
担当区分	筆頭著者,責任著者
発行年月	2016/05
概要	BACKGROUND: Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging. CASE REPORT: We encountered a 16-year-old boy who began to show difficulties in his speech at the age of 6years. Due to a mild regression in his development, he gradually lost common daily abilities. His diagnosis was first obtained through exome sequencing that identified a novel homozygous mutation in the AGA gene. This result was reasonable because of parental consanguinity. Reduced enzymatic activity of AGA was then confirmed. His urine was retrospectively screened by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and a specific pattern of abnormal metabolites was identified. CONCLUSIONS: Because both exome sequencing and MALDI-TOF-MS screening are adaptable and comprehensive, future combinatory use of these methods would be useful for diagnosis of rare inborn errors of metabolism such as AGU.
DOI	10.1016/j.braindev.2016.12.004
PMID	28063748