Fabry's disease with partially deficient hydrolysis of ceramide trihexoside

Takuro Kobayashi, Junichi Kira, Nobue Shinnoh, Ikuo Goto, Yoshigoro Kuroiwa

研究成果: ジャーナルへの寄稿学術誌査読

16 被引用数 (Scopus)

抄録

A report is presented on biochemical studies of the fibroblasts from a 26-year-old man with Fabry's disease whose clinical picture was atypical. The patient had severe pain in the extremities, but no angiokeratomas, corneal clouding or hypohidrosis. The trihexosylceramidase activity in the fibroblasts in vitro was deficient. The level and Km value of the residual activity were similar to levels seen in typical Fabry's patients. However, fibroblasts from the patient cultured in medium supplemented with [3H]ceramide trihexoside hydrolyzed the labeled ceramide trihexoside much higher than did cells from typical Fabry's patients, implying that the patient has a partial defect in hydrolysis of trihexosylceramide in cultured fibroblasts.

本文言語英語
ページ(範囲)179-185
ページ数7
ジャーナルJournal of the Neurological Sciences
67
2
DOI
出版ステータス出版済み - 2月 1985
外部発表はい

!!!All Science Journal Classification (ASJC) codes

  • 神経学
  • 臨床神経学

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