Fabry Disease

(Fabry disease, Angiokeratoma diffusum)

The Fabry disease is a sphingolipidosis, an inherited metabolic disorder caused by a deficiency of ?-galactosidase A, which leads to angiokeratomas, Acroparästhesien, corneal opacities, repeated febrile episodes and kidney or heart failure.

For more information, see Table sphingolipidosis.

The Fabry disease is a sphingolipidosis, an inherited metabolic disorder caused by a deficiency of ?-galactosidase A, which leads to angiokeratomas, Acroparästhesien, corneal opacities, repeated febrile episodes and kidney or heart failure. For more information, see Table sphingolipidosis. S. acuh procedure in a patient suspected of having a congenital metabolic disorder The Fabry disease is an X-linked deficiency of the lysosomal enzyme ?-galactosidase A that is used for normal Trihexosylceramidkatabolismus. Glycolipids (globotriaosylceramide) accumulate in many tissues of (z. B. in the vascular endothelium, in lymphatic vessels, heart, kidneys). The diagnosis is in men due to the typical skin lesions (angiokeratoma) above the lower body and based on the typical appearance of peripheral neuropathy (which a lasting burning pain caused), corneal opacity of the lens and repeated febrile episodes clinically detected. Death occurs by kidney or heart failure or cerebral complications of hypertension and other vascular diseases. Heterozygous women are asymptomatic, but can often have a milder form of the disease with corneal opacity of the lens. The diagnosis of Fabry disease is provided by a Galactosidaseaktivitätsassay – prenatally in amniocytes or chorionic villi and postnatal serum or white blood cells. (See also check on suspicion of inherited metabolic disorders.) The treatment of Fabry disease consists of enzyme replacement with a recombinant ?-galactosidase A (agalsidase beta) in combination with symptomatic treatment for fever and pain. A kidney transplant is effective in kidney failure.

Health Life Media Team

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