This X-linked disorder is a consequence of deficient activity of lysosomal alpha-glactosidase A, which results in accumulation of ceramide trihexoside in multiple tissues.
The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males.
Along with a thorough investigationof all affected organs the determination of galactosidase A activity in plasma or leucocytes is in male patients significant for the diagnosis. To identify heterozygous female patients it is necessary to perform molecular investigation.
The accumulation of ceramide in different cells results in organ dysfuncion.Kidneys: Moderate proteinuria, renal insufficiency, dialysis.Heart: Cardiomegaly, coronary artery disease, conduction abnormalities.Nervous system: Acroparethesias, hypohidrosis, gastrointestinal problems.Vasculture: Angiokeratoma, stroke, vertigo, deafness.Eyes: Corneal opacity.
|Lysosomal storage disease|
|Infantile sialic acid storage disorder|
|Lysosomal acid lipase deficiency|
Grünfeld JP et al. (2002) Anderson-Fabry disease: its place among other genetic causes of renal disease.[^]
Pastores GM et al. (2002) Biochemical and molecular genetic basis of Fabry disease.[^]
Branton M et al. (2002) Natural history and treatment of renal involvement in Fabry disease.[^]
Orphanet articleOrphanet ID 324 [^]
OMIM.ORG articleOmim 301500 [^]
Wikipedia articleWikipedia EN (Fabry_disease) [^]