TY - JOUR
T1 - Fabry's disease with partially deficient hydrolysis of ceramide trihexoside
AU - Kobayashi, Takuro
AU - Kira, Junichi
AU - Shinnoh, Nobue
AU - Goto, Ikuo
AU - Kuroiwa, Yoshigoro
N1 - Funding Information:
Thts work was supported m part by grants from the Mlmstry of Health and Welfare, Japan. Correspondence and reprints should be addressed to. Takuro Kobayastu, M.D., Department of Neurology, Neurological Institute. Faculty of Medicine, Kyushu University 60, 3-I-1 Maidashl, Hlgashl ku, Fukuoka 812, Japan.
PY - 1985/2
Y1 - 1985/2
N2 - 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.
AB - 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.
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U2 - 10.1016/0022-510X(85)90114-5
DO - 10.1016/0022-510X(85)90114-5
M3 - Article
C2 - 2984338
AN - SCOPUS:0021918325
SN - 0022-510X
VL - 67
SP - 179
EP - 185
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 2
ER -