Paller A S
Neurol Clin. 1987 Aug;5(3):441-6.
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.
许多代谢紊乱的特征是全身性血管角质瘤和神经功能障碍。法布里病（弥漫性全身性躯体血管角质瘤）是一种X连锁隐性疾病，由α-半乳糖苷酶A缺乏引起。岩藻糖苷贮积症是一种由岩藻糖苷酶缺乏引起的常染色体隐性疾病。伴有神经氨酸酶和β-半乳糖苷酶缺乏的唾液酸贮积症是第三种重要的相关疾病。
