Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.


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.


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



Grünfeld JP et al. (2002) Anderson-Fabry disease: its place among other genetic causes of renal disease.

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Pastores GM et al. (2002) Biochemical and molecular genetic basis of Fabry disease.

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Branton M et al. (2002) Natural history and treatment of renal involvement in Fabry disease.

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Orphanet article

Orphanet ID 324 external link

OMIM.ORG article

Omim 301500 external link

Wikipedia article

Wikipedia EN (Fabry_disease) external link
Update: Aug. 14, 2020
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