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Zebra Bodies in Fabry disease

Electron microscopy revealed layered membrane structures appearing as so-called zebra bodies within enlarged lysosomes in the podocytes. A diagnosis of Fabry’s disease was confirmed when a mutation in the gene encoding alpha-galactosidase A (GLA) was detected. Fabry’s disease is an X-linked lysosomal storage disorder caused by mutations that result in low or absent activity of the enzyme alpha-galactosidase A. This deficiency results in the accumulation of globotriaosylceramide in cells, resulting in the formation of the characteristic zebra bodies. Treatment of Fabry’s disease includes enzyme-replacement therapy; however, this treatment was not available where the patient was living. Carbamazepine is given for pain management.

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