Fabry disease

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.

Epidemiology

The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males.

Test Strategy

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.

Pathogenesis

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.

Systematic

Lysosomal storage disease
	Chediak-Higashi syndrome
	Cystinosis
	Fabry disease
		GLA
	Infantile sialic acid storage disorder
	Lysosomal acid lipase deficiency
	Salla disease
	Wolman disease