Metabolic disorders characterized by angiokeratomas and neurologic dysfunction.
A number of metabolic disorders are characterized by generalized angiokeratomas and neurologic dysfunction. Fabry's disease (angiokeratoma corporis diffusum universale) is an X-linked recessive disorder caused by a deficiency of alpha-galactosidase A. Fucosidosis is an autosomal recessive disorder caused by a lack of fucosidase. Sialidosis with deficiencies of neuraminidase and beta-galactosidase is the third important association.
D000795:Fabry Disease / Q000175:diagnosis*; D005645:Fucosidosis / Q000175:diagnosis*; D006801:Humans; D009422:Nervous System Diseases / Q000175:diagnosis*