ABSTRACT

Angiokeratomas of the skin, episodic pain in the extremities, hypohidrosis, corneal and lenticular opacities, postprandial pain and diarrhea, neuropathy, renal disease, coronary and cerebral vascular disease, accumulation of glycosphingolipids with a terminal galactose, and deficiency of ceramide trihexosidase (α-galactosidase A).