"Fabry disease, also known as Anderson-Fabry disease, is a multisystem disorder resulting from an X-linked inborn error of metabolism and is a lysosomal storage disorder. The disease results from genetic mutations in the gene GLA that cause decreased or absent expression of hydrolase alpha-galactosidase A, ultimately resulting in abnormal accumulation of globotriaosylceramide (Gb3) in various organ systems 8."
Expected headings
"Neurological"
"Renal"
"Ocular"
"Cardiac"
"Musculoskeletal"
"Pulmonary"