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Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Meningitis is an infection that causes the thin layers of the meninges that surround the brain and spinal cord to become inflamed, explains Dr. Rodrigo Hasbun, an infectious diseases professor at ...
[5]: 589 The disease is named after Italian dermatologist Vittorio Mibelli (1860-1910). [ 6 ] Angiokeratoma of Fordyce (also known as "Angiokeratoma of the scrotum and vulva," though not to be confused with Fordyce's spots ) [ 5 ] is a skin condition characterized by red to blue papules on the scrotum or vulva.
Other causes of this condition include a metabolic disorder called Fabry disease, immune disorders such as celiac disease or Sjogren syndrome, an inflammatory condition called sarcoidosis, and human immunodeficiency virus (HIV) infection.
To date the frequency of Fabry disease among general population has been estimated to be around 1:40,000. However, recent investigations have shown that Fabry disease can occur in 1 of 83 stroke patients aged 18–55 and between 1 of 3,500 to 1 of 4,500 individuals of the general population.
Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
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