Fabry's disease

(redirected from Alpha-galactosidase A deficiency)

Fabry's disease (syndrome)

 [fah´brēz]
a sphingolipidosis transmitted as an X-linked recessive trait, in which the glycolipid trihexosyl ceramide is deposited in various tissues, especially the kidneys; the deficient enzyme is α-galactosidase A. It is marked by purpuric skin lesions (angiokeratomas), central nervous system symptoms, and death due to progressive renal failure. Called also angiokeratoma corporis diffusum.

Fabry's disease

Alpha-galactosidase deficiency, angiokeratoma corporis diffusum Pediatrics An X-linked lysosomal storage disease caused by a defect in trihexosylceramide α-galactosidase Clinical Chronic pain, angiokeratomas, hypohidrosis
References in periodicals archive ?
Release date- 02082019 - CRANBURY - Amicus Therapeutics (Nasdaq: FOLD) today announced that the Agency of Medicines, Food and Medical Devices (ANMAT) in Argentina has granted approval for the first-in-class, oral small molecule pharmacological chaperone Galafold (migalastat), as a monotherapy for the treatment of people aged 16 years and older with a confirmed diagnosis of Fabry disease (alpha-galactosidase A deficiency) and who have an amenable mutation.
Eng, "Alpha-galactosidase A deficiency: fabry disease," in The Metabolic and Molecular Basis of Inherited Disease, C.
Galafold is now reimbursed in Italy as a therapy for long-term treatment of adults and adolescents aged 16 years and older with a confirmed diagnosis of Fabry disease (alpha-galactosidase A deficiency) and who have an amenable mutation, added the company.