Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing

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• 作者：Takashi Matsukawa ; MD ; PhD^a ; ¹ ; Kagari Mano Koshi ; MD^a ; ¹ ; Jun Mitsui ; MD ; PhD^a ; Taro Bannai ; MD^a ; Miho Kawabe ; MD^a ; Hiroyuki Ishiura ; MD ; PhD^a ; Yasuo Terao ; MD ; PhD^a ; Jun Shimizu ; MD ; PhD^a ; Keiko Murayama ; MD^b ; Jun Yoshimura ; PhD^c ; Koichiro Doi ; PhD^c ; Shinichi Morishita ; PhD^c ; Shoji Tsuji ; MD ; PhD^a ; Jun Goto ; MD ; PhD^a ; ^d ; ^{gotoj-tky@umin.ac.jp}
• 关键词：d-Bifunctional protein deficiency ; HSD17B4 ; Whole-exome sequencing ; Hearing impairment ; Peripheral neuropathy ; Cerebellar ataxia
• 刊名：Journal of the Neurological Sciences
• 出版年：2017
• 出版时间：15 January 2017
• 年：2017
• 卷：372
• 期：Complete
• 页码：6-10
• 全文大小：558 K
• 卷排序：372

文摘

We report a d-bifunctional protein (DBP) deficiency case surviving until adulthood. He was diagnosed by whole-exome sequencing analysis. Levels of very long chain fatty acids were normal in plasma. An increasing number of DBP deficiency surviving until adulthood have been reported.