Fabry disease

info · Genetic · ICD-10: E75.21

A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.

Signs and symptoms

Abnormality of the hand
Angiokeratoma
Seizure
Corneal dystrophy
Muscle spasm
Fasciculations
Tenesmus
Arrhythmia
Angiokeratoma corporis diffusum
Abnormal autonomic nervous system physiology

Medications that may treat it

agalsidase beta migalastat pegunigalsidase alfa

Also known as: Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; Fabry Disease, Cardiac Variant; Fabry's disease; alpha galactosidase deficiency