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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.
Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the ...
The symptoms of lysosomal storage diseases vary depending on the particular disorder and other variables such as the age of onset, and can be mild to severe. They can include developmental delay, movement disorders, seizures , dementia , deafness , and/or blindness .
[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.
Common symptoms are often flulike and include headache, dizziness, upset stomach, chest pain or confusion, but highly concentrated levels of CO can cause a person to pass out without feeling symptoms.
'Today' show star Al Roker got honest about aging, and fans are saying he needs to "take care of himself" after seeing his Instagram.
The disease people develop after eating food contaminated with this bacteria is called listeriosis. What the symptoms are: Mild symptoms of listeriosis include fever, muscle aches, ...
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