Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of lipid/glycolipid metabolism
H00125 Fabry disease
Lysosomal storage diseases
H00125 Fabry disease
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00125 Fabry disease
