@entity2314 is an @entity1112 caused by a @entity2314 . This defect results in the accumulation of glycosphingolipids in various organ systems. Lipid deposits occur preferentially in vascular endothelial and smooth muscle cells, leading to @entity455 , which results in tissue @entity63 and @entity432 . Clinical symptoms are divided into two categories: early symptoms and late complications. Early symptoms include acroparesthesia, bouts of @entity158 in the hands or feet, @entity3797 , @entity15967 , and @entity344 , which begin in the early childhood of @entity1 with @entity2314 . Late complications include @entity299 , and @entity385 , which determine morbidity and mortality after age 30 years. Enzyme replacement therapy (ERT) using recombinant @entity1 a-galactosidase A has recently developed, and has been shown to improve prognosis of @entity1 with @entity2314 . Recent reports investigating long-term outcomes with ERT have shown that early initiation before the development of irreversible organ failure is particularly effective. Diagnosis at the early stage of the disorder and the early initiation of ERT alleviate symptoms and prevent late complications. The disorder should be widely recognized to improve @entity1 ' outcome.

[ XXXX : Pathogenesis, Clinical Symptoms, and Treatment with Enzyme Replacement Therapy].

@entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity455 :: ('MESH:D014652', 'Disease') :: ['vascular dysfunction'] @entity63 :: ('MESH:D007511', 'Disease') :: ['ischemia'] @entity1112 :: ('MESH:D040181', 'Disease') :: ['X-linked lysosomal disorder'] @entity344 :: ('MESH:D005767', 'Disease') :: ['gastrointestinal complications'] @entity2314 :: ('MESH:D000795', 'Disease') :: ['deficiency in lysosomal glycohydrolase a-galactosidase A', 'Fabry disease'] @entity15967 :: ('MESH:D000794', 'Disease') :: ['angiokeratoma'] @entity158 :: ('MESH:D010146', 'Disease') :: ['pain'] @entity299 :: ('MESH:D006331', 'Disease') :: ['renal and cardiac dysfunction'] @entity432 :: ('MESH:D001157', 'Disease') :: ['vessel occlusion'] @entity3797 :: ('MESH:D007007', 'Disease') :: ['hypohidrosis'] @entity385 :: ('MESH:D002544', 'Disease') :: ['cerebral infarction']
@entity2314 :: (MESH:D000795,Disease) :: ['Fabry Disease']
