Fabry's disease.
Fabry's disease is a rare X-linked, recessive, glycolipid storage disorder. It is caused by the deficient activity of a lysosomal enzyme, alpha-galactosidase A. Deficiency of alpha-GAL causes an inability to catabolize the lipids with cellular accumulation of its most abundant substrate, globotriaosylceramide (GL-3), and other neutral glycosphingolipids in the vascular endothelium and numerous tissues throughout the body. This progressive glycosphingolipid accumulation leads to life-threatening clinical sequelae in renal, cardiac and cerebrovascular systems. Heterozygous Fabry's disease is less studied. We present a patient, 43 years old, with cardiac (hypertrophic cardiomyopathy), neurological (sensitive-motive polyneuropathy), digestive (chronic diarrheea), renal and cutaneous involvements.
Adam
Tatiana
T
1st Internal Medicine Department, The Emergency County Hospital Constanţa, Romania. tatianaadam04@yahoo.com
Alexandrescu
Luana
L
Voinea
F
F
Toringhibel
M
M
Hâncu
Anca
A
D000328:Adult; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans