Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

References:

1.

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

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2.

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

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3.

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

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4.

Orphanet article

Orphanet ID 324 [^]
5.

OMIM.ORG article

Omim 301500 [^]
6.

Wikipedia article

Wikipedia EN (Fabry_disease) [^]
Update: May 9, 2019