Fabry's disease with partially deficient hydrolysis of ceramide trihexoside

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

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Abstract

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.

Original languageEnglish
Pages (from-to)179-185
Number of pages7
JournalJournal of the Neurological Sciences
Volume67
Issue number2
DOIs
Publication statusPublished - Feb 1985

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All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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