Fabry Disease

What is Fabry Disease? Fabry disease (diffuse universal angiokeratoma, hereditary dystonic lipidosis) is a congenital disease characterized by a hereditary deficiency of the alpha-G4-galactosidase enzyme, resulting in the accumulation of glycolipids (ceramide) in the cytoplasm

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Actinomycosis

What is Actinomycosis? Actinomycosis (synonyms: radiovascular fungal disease; Aktinomykose – German .; actinomycose – French) is a chronic disease caused by various types of actinomycetes. It is characterized by lesions of various organs and tissues

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Xanthinuria

What is Xanthinuria? Xanthinuria is a hereditary disease caused by a deficiency of the xanthine oxidase enzyme and characterized by impaired purine metabolism; manifests itself as recurrent hematuria and pain in the lumbar region, an

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Acromegaly

What is Acromegaly? Acromegaly is a severe, chronic neuroendocrine disease resulting from the overproduction of growth hormone by the pituitary adenoma (somatotropinoma). The prevalence of acromegaly is about 40-60 cases per million population, the incidence

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